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Gene: Cerkl MGI:3037816

Gene Summary

Name:

ceramide kinase-like

Synonyms:

Rp26

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased exploration in new environment		Cerkl^{tm1b(KOMP)Wtsi}	HOM		Early adult	1.70×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cerkl mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Cerkl (2 diseases)
Human diseases predicted to be associated with Cerkl (700 diseases)

The table below shows human diseases associated to Cerkl by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Retinitis Pigmentosa		Keratoconus, Abnormality of retinal pigmentation, Blindness, Cataract, Abnormal retinal vascular ...	ORPHA:791
Retinitis Pigmentosa 26		Optic disc pallor, Constriction of peripheral visual field, Rod-cone dystrophy, Visual impairment...	OMIM:608380

The table below shows human diseases predicted to be associated to Cerkl by phenotypic similarity.

Disease	Matching phenotypes	Source
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision...	OMIM:603649
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ...	OMIM:608051
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss	OMIM:615439
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy, Visual impairment	OMIM:613827
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment	OMIM:126600
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula...	OMIM:136550
Stargardt Disease 3	Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment	OMIM:600110
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,...	OMIM:605670
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Macular Dystrophy, Patterned, 3	Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color...	OMIM:608850
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar...	ORPHA:59181
Best Vitelliform Macular Dystrophy	Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme...	ORPHA:1243
Macular Dystrophy, Vitelliform, 2	Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ...	OMIM:153700
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Progressive visual loss, Retinal degeneration	OMIM:601780
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Leber Congenital Amaurosis 19	Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment...	ORPHA:97341
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual...	ORPHA:85128
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization, Reduced visual acuity	OMIM:616118
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de...	OMIM:180020
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Stargardt Disease 4	Macular degeneration, Retinal flecks, Reduced visual acuity	OMIM:603786
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis...	ORPHA:1852
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu...	OMIM:612712
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation, Metamorphopsia	OMIM:233800
Macular Degeneration, Atrophic, X-Linked	Macular degeneration, Reduced visual acuity	OMIM:300834
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Cataract, Nyctalopia, Reduce...	OMIM:613731
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co...	OMIM:616544
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Visual field defect, Attenuation of retin...	OMIM:609923
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Visual field defect, Rod-cone dystrophy, Visual impairme...	OMIM:613809
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	High hypermetropia, Retinal degeneration	OMIM:251700
Wagner Vitreoretinopathy	Myopia, Retinal pigment epithelial atrophy, Cataract, Visual loss, Optically empty vitreous, Opti...	OMIM:143200
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy, Visual impairment	ORPHA:1995
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Bietti Crystalline Dystrophy	Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec...	ORPHA:41751
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu...	OMIM:600977
Choroideremia	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d...	OMIM:303100
Blue Cone Monochromatism	Blue cone monochromacy, Abnormality of retinal pigmentation, Corneal dystrophy, Photophobia, Visu...	ORPHA:16
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph...	OMIM:609913
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi...	OMIM:180210
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Retinitis Pigmentosa Inversa With Deafness	Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H...	OMIM:617879
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,...	OMIM:609021
Ceroid Lipofuscinosis, Neuronal, 2	Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme...	OMIM:204500
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Foveal Hypoplasia-Presenile Cataract Syndrome	Abnormality of vision, Generalized hyperpigmentation, Optic atrophy, Cataract	ORPHA:2253
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
X-Linked Retinoschisis	Abnormality of vision, Retinoschisis, Cataract	ORPHA:792
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N...	OMIM:620342
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 70	Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma...	OMIM:615922
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615725
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm...	OMIM:608194
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:610359
Ceroid Lipofuscinosis, Neuronal, 3	Blindness, Cataract, Increased neuronal autofluorescent lipopigment, Increased extraneuronal auto...	OMIM:204200
Progressive Cone Dystrophy	Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect	ORPHA:1871
Achromatopsia	Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m...	ORPHA:49382
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu...	OMIM:304020
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral...	OMIM:600138
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	ORPHA:1178
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Myopia, Optic atrophy, Visual impairment	ORPHA:1574
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina, Visual field defect	OMIM:610445
Retinitis Pigmentosa 47	Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:613758
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho...	OMIM:608161
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Shallow ante...	OMIM:267760
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,...	OMIM:610381
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Subcapsular cat...	OMIM:600059
Nanophthalmos	Abnormality of retinal pigmentation, High hypermetropia, Abnormal choroid morphology	ORPHA:35612
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:618144
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary retinopat...	OMIM:610951
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co...	OMIM:607921
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Choroideremia	Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua...	ORPHA:180
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Cataract, Macul...	OMIM:180104
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract	OMIM:300719
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Cataract, Photophobia, Progressive night blindness, Visual im...	ORPHA:75858
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ...	OMIM:613750
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Visual impairment	ORPHA:2246
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract, Nyctalopia, Rod-cone dystrophy, Attenuation of...	OMIM:613801
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:613582
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:617871
Cone Rod Dystrophy	Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect	ORPHA:1872
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri...	OMIM:619007
Progressive Bifocal Chorioretinal Atrophy	Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment	ORPHA:75373
Retinal Dystrophy And Obesity	Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual...	OMIM:616188
Birdshot Chorioretinopathy	Arcuate scotoma, Choroidal neovascularization, Blind-spot enlargment, Vitritis, Photophobia, Atte...	ORPHA:179
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma...	OMIM:312600
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R...	OMIM:614181
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:601718
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Scotoma, Optic atrophy, Reduced visual acuity	OMIM:165300
Bestrophinopathy, Autosomal Recessive	Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks	OMIM:611809
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Blindness, Cataract, Fundus atrophy, Nyctalopia, Absent foveal re...	OMIM:204100
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Mildly reduced visual acuity, Cataract, Vitreous floaters, Lattice retinal de...	OMIM:614292
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:614322
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Ophthalmoplegia, External, And Myopia	Myopia, Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:617123
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i...	OMIM:613428
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu...	OMIM:617781
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho...	OMIM:613660
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Nyctalopia,...	OMIM:618220
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten...	OMIM:614180
Retinitis Pigmentosa 38	Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a...	OMIM:613862
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ...	OMIM:602093
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio...	OMIM:600852
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:620228
Achromatopsia 7	Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a...	OMIM:616517
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts, Visual impairment	OMIM:136520
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott...	OMIM:610478
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a...	OMIM:608133
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a...	OMIM:615147
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:620102
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,...	ORPHA:215
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Central Retinal Vein Occlusion	Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Abnormal anteri...	ORPHA:411527
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath...	OMIM:615780
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:617304
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macul...	OMIM:256730
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia...	OMIM:300843
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy	OMIM:179840
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C...	OMIM:616108
Bothnia Retinal Dystrophy	Macular degeneration, Nyctalopia, Retinal dystrophy	OMIM:607475
Neuropathy, Ataxia, And Retinitis Pigmentosa	Blindness, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, ...	OMIM:551500
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618826
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi...	OMIM:180100
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular p...	OMIM:613835
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:617460
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction...	OMIM:615973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Oguchi Disease	Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station...	ORPHA:75382
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism, Hypermetropia	OMIM:268060
Retinitis Pigmentosa 92	Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,...	OMIM:619614
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Leber Congenital Amaurosis 1	Keratoconus, Blindness, Cataract, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc d...	OMIM:204000
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:606068
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Central heterochromia, Retinal degeneration	OMIM:275400
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Keratoconus, Macular atrophy, Nyctalopia, ...	OMIM:604393
Nephronophthisis 15	Blindness, Retinal degeneration	OMIM:614845
Bardet-Biedl Syndrome 16	Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration	OMIM:615993
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy, Hyp...	OMIM:172870
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N...	OMIM:300029
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment, Cataract	OMIM:147610
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:180105
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Retinitis Pigmentosa 6	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin...	OMIM:312612
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive...	OMIM:264420
Retinitis Pigmentosa 23	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Posteri...	OMIM:300424
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Progressive visual loss, Cere...	OMIM:256731
Mucolipidosis Iv	Cerebellar atrophy, Corneal opacity, Optic atrophy, Photophobia, Opacification of the corneal str...	OMIM:252650
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Reduced visual acuity, Retinal pigment epithelial mottling, Central retinal vessel vascular tortu...	ORPHA:506353
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Progressive visual loss, Visual...	ORPHA:3156
Bardet-Biedl Syndrome 4	Nyctalopia, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:616502
Stickler Syndrome Type 2	Retinal detachment, Myopia, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retino...	ORPHA:90654
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli...	OMIM:619389
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho...	OMIM:610356
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Myopia, Retinal degeneration	ORPHA:3363
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration	OMIM:520000
Retinitis Pigmentosa 46	Optic disc pallor, Constriction of peripheral visual field, Posterior subcapsular cataract, Pigme...	OMIM:612572
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Posterior subcaps...	OMIM:611131
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Visual loss, Central scotoma,...	OMIM:604116
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Amblyopia, Optic disc coloboma	ORPHA:35737
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:613581
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:613983
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal optic disc morphology, Sever...	ORPHA:65
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten...	ORPHA:141
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate...	OMIM:618173
Adult-Onset Foveomacular Vitelliform Dystrophy	Iris hypopigmentation, Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelli...	ORPHA:99000
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Patchy atrophy of the retinal pigme...	ORPHA:67042
Exudative Vitreoretinopathy 5	Reduced visual acuity, Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal f...	OMIM:613310
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin...	OMIM:617406
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment	OMIM:600790
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Cataract	OMIM:615995
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho...	OMIM:613464
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi...	ORPHA:52427
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi...	OMIM:210370
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy	OMIM:619090
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization	OMIM:608895
Optic Atrophy 5	Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte...	OMIM:610708
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Blindness, Cataract, Abnormality of retinal pigmentation, Visual loss, Lens s...	ORPHA:171844
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Myopia, Facial palsy	ORPHA:2743
Acute Zonal Occult Outer Retinopathy	Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con...	ORPHA:284454
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:615233
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi...	OMIM:600105
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Myopia, Iris coloboma, Ectopia lentis	ORPHA:1259
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Myopia, Cataract, Patchy atrophy of the retina...	OMIM:616468
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f...	OMIM:300476
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia,...	OMIM:614186
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:612095
Vitreoretinochoroidopathy	Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Pulverulent cataract, De...	OMIM:193220
Exudative Vitreoretinopathy 3	Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ...	OMIM:605750
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Leber Congenital Amaurosis 15	Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Posterior subcaps...	OMIM:613843
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Posterior subcapsular cat...	OMIM:613810
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation, High myopia	ORPHA:1117
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:602772
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613617
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Cerebral cortical atrophy, Visual i...	ORPHA:1466
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Blindness, Cataract, Abnormal retinal vascular ...	ORPHA:791
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy, Abnormality of vision	ORPHA:1897
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Redu...	OMIM:309300
Retinitis Pigmentosa 87 With Choroidal Involvement	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num...	OMIM:618697
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:600132
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:616469
Alpha-Methylacyl-Coa Racemase Deficiency	Constriction of peripheral visual field, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Vi...	OMIM:614307
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss	OMIM:164500
Sjögren-Larsson Syndrome	Myopia, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal erosion, Phot...	ORPHA:816
Chromosome 16Q12 Duplication Syndrome	Cataract, Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Ph...	OMIM:619649
Diprosopus	Abnormality of vision, Abnormality of retinal pigmentation	ORPHA:1681
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v...	OMIM:605549
Congenital Glaucoma	Visual loss, Retinal detachment	ORPHA:98976
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v...	ORPHA:94058
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy, High myopia	OMIM:614284
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract, High myopia	OMIM:619781
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Visual impairment, Developmental cataract	OMIM:246000
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Photophobia, Visual impairment, Color vision ...	ORPHA:1873
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Poretti-Boltshauser Syndrome	Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia	OMIM:615960
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Cerebral atrophy...	OMIM:616171
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Nyctalopia, Cataract, Retinal dystrophy, Reduced visual acuity	OMIM:610156
Narp Syndrome	Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field...	ORPHA:644
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M...	OMIM:610283
Hsd10 Mitochondrial Disease	Visual loss, Optic atrophy, Cerebral cortical atrophy, Retinal degeneration	OMIM:300438
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Reduced visual acuity, Developmental cataract, Posterior synechiae of the anteri...	OMIM:616722
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo...	ORPHA:209943
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal audi...	OMIM:619260
Retinopathy Of Prematurity	Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula...	ORPHA:90050
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene...	OMIM:613767
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, He...	ORPHA:1390
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Myopia, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe...	OMIM:613756
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con...	OMIM:613194
Scheie Syndrome	Corneal opacity, Retinal degeneration	OMIM:607016
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment	OMIM:617236
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Photophobia, High hypermetropia, Severely reduced visual acuity, Attenuati...	OMIM:613826
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete...	ORPHA:436245
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Blindness, Constriction of peripheral visual field, Cataract, Nyctalopia, Poster...	OMIM:300578
Enhanced S-Cone Syndrome	Cataract, Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Reti...	OMIM:268100
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole, High myopia	OMIM:608367
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Macular degeneration, Retinal degeneration, Cer...	OMIM:604360
Exudative Vitreoretinopathy 4	Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm...	OMIM:601813
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch...	OMIM:601777
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Visual loss,...	OMIM:610127
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, High myopia, Microcornea, Cortical pulver...	OMIM:610202
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Reduced visual acuity, Cataract	OMIM:619082
Retinitis Pigmentosa 75	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co...	OMIM:617023
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy	OMIM:620312
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Nyctalopia, Rod-cone dystrophy, Visual impairment	OMIM:600151
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Cataract, Chorioretinal degeneration,...	ORPHA:414
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Visual impairment	ORPHA:44
Hypotrichosis With Juvenile Macular Degeneration	Blindness, Melanocytic nevus, Macular degeneration, Abnormality of macular pigmentation, Freckling	ORPHA:1573
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Amblyopia, Blue irides, Reduced visual a...	ORPHA:352731
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi...	ORPHA:1433
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Nyctalopia, Visual ...	ORPHA:96
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia	ORPHA:370022
Optic Atrophy 8	Abnormal auditory evoked potentials, Central scotoma, Visual loss, Abnormality of pattern visual ...	OMIM:616648
Developmental And Epileptic Encephalopathy 28	Cerebral atrophy, Optic atrophy, Retinal degeneration	OMIM:616211
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac...	ORPHA:897
Exudative Vitreoretinopathy 1	Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi...	OMIM:133780
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Large central visual field defect, Blindness, Visual loss,...	ORPHA:79264
Refsum Disease, Classic	Nyctalopia, Rod-cone dystrophy, Retinal degeneration, Cataract	OMIM:266500
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Myopia, Blindness, Corpus callosum atrophy, Visual loss, Abnormal amplitude o...	ORPHA:168491
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Cataract, Visual impairment	ORPHA:3085
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct...	ORPHA:5
Autosomal Recessive Stickler Syndrome	Retinal detachment, Myopia, Cataract, Amblyopia, Vitreoretinopathy, Astigmatism	ORPHA:250984
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Uveal Melanoma	Retinal detachment, Metamorphopsia, Photopsia, Iris melanoma, Visual loss, Inferior lens subluxat...	ORPHA:39044
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration	OMIM:249270
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Visual impairment, Reduced visual acuity, Retinal degeneration	OMIM:270700
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, High myopia, Iris transillumination defect, Ectopia...	OMIM:225200
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Blindness, ...	OMIM:609033
Ramon Syndrome	Abnormality of retinal pigmentation, Abnormal anterior chamber morphology	ORPHA:3019
Retinitis Pigmentosa 74	Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Pigmentary ret...	OMIM:616562
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Macrophthalmia, Colobomatous, With Microcornea	Myopia, Flat cornea, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Microcornea, Sh...	OMIM:602499
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Abnormality of vision...	ORPHA:83461
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Myopia, Rhegmatogenous retinal detachment	OMIM:609508
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Cerebral visual impairment	OMIM:618234
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Cataract, Diplopia, Tortuosity of conjunctival vessels, Macular degeneration	ORPHA:284289
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Visual impairment	ORPHA:858
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Vogt-Koyanagi-Harada Disease	Retinal detachment, Cataract, Poliosis, Hypopigmented skin patches, Premature graying of hair, Vi...	ORPHA:3437
Stickler Syndrome Type 1	Retinal detachment, Myopia, Cataract, Visual loss, Abnormal vitreous humor morphology	ORPHA:90653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Visual impairment, Cataract, Reduced visual acuity, Retinal degeneration	OMIM:615249
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, V...	ORPHA:290
Retinitis Pigmentosa 26	Optic disc pallor, Constriction of peripheral visual field, Rod-cone dystrophy, Visual impairment...	OMIM:608380
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Aniridia 2	Cataract, Amblyopia, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Cln3 Disease	Cerebellar atrophy, Blindness, Cataract, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmen...	ORPHA:228346
Mucolipidosis Type Iv	Photophobia, Abnormality of retinal pigmentation, Retinopathy, Corneal opacity	ORPHA:578
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Reduced visual acuity, Rod-co...	OMIM:615434
Idiopathic Panuveitis	Blindness, Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal m...	ORPHA:280921
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm...	OMIM:615994
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Posterior subcapsular catarac...	OMIM:258870
Stickler Syndrome, Type Ii	Retinal detachment, Myopia, Abnormal vitreous humor morphology, Cataract	OMIM:604841
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Myopia, Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Nance-Horan Syndrome	Retinal detachment, Cataract, Visual loss, Microcornea, Visual impairment	ORPHA:627
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Subcapsular cat...	OMIM:268020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Blindness, Myopia, Cataract, Optic nerve hypoplasia	OMIM:615181
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation, Myopia	ORPHA:1496
Maternally-Inherited Diabetes And Deafness	Cataract, Abnormal chorioretinal morphology, Macular dystrophy, Retinopathy, Visual impairment	ORPHA:225
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Myopia, Cerebral cortical atrophy, Facial palsy	ORPHA:370968
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy	ORPHA:404451
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Constriction of peripheral visual field, Optic atrophy, Abno...	ORPHA:1215
Isolated Aniridia	Cataract, Visual loss, Peters anomaly, Aniridia, Aplasia/Hypoplasia of the macula	ORPHA:250923
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Hsd10 Disease, Infantile Type	Blindness, Diffuse cerebral atrophy, Visual loss, Optic atrophy, Cerebral atrophy, Frontotemporal...	ORPHA:391428
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Reduced visual acuity, Retinal coloboma, Lens subluxation, Iris co...	OMIM:216820
Night Blindness, Congenital Stationary, Type 1B	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n...	OMIM:257270
Oculopharyngodistal Myopathy 3	Photophobia, Pigmentary retinopathy	OMIM:619473
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Rod-cone dystrophy, Retinal coloboma, Cataract	ORPHA:363741
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Rod-cone dystrophy, Retinal coloboma, Cataract	OMIM:601794
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Cerebral atrophy, Abnormality of vision, Brain atrophy, Retinal degeneration	ORPHA:442835
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Nyctalopia, Abnormality of vision, Progressive vis...	ORPHA:773
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Myopia, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lac...	OMIM:152950
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Macular degeneration, Cataract	OMIM:619780
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Peripheral v...	OMIM:268315
Flynn-Aird Syndrome	Myopia, Rod-cone dystrophy, Cataract	OMIM:136300
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Hypermetropia, Keratoglobus, Astigmatism, Retin...	OMIM:108145
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract	ORPHA:324416
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi...	OMIM:616959
Congenital Muscular Dystrophy, Fukuyama Type	Myopia, Cataract, Optic atrophy, Retinal dysplasia, Visual impairment	ORPHA:272
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Optic atrophy	ORPHA:329314
Norrie Disease	Retinal detachment, Blindness, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia o...	OMIM:310600
Usher Syndrome	Abnormality of retinal pigmentation, Blindness, Myopia, Cataract, Nyctalopia, Visual field defect...	ORPHA:886
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy, Visual impairment	ORPHA:2518
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Photophobia, Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Achondrogenesis Type 2	Retinal detachment, Myopia, Cataract, Abnormal vitreous humor morphology, Lens subluxation	ORPHA:93296
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Visual impairment	OMIM:252011
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Astigmatism, Visual impairment	ORPHA:1824
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Cerebral visual impairment, Optic atrophy, Microco...	ORPHA:2510
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Nyctalopia, Abnormality of pattern visual evoked potentials, Visual field defect, Cafe-au-lait sp...	ORPHA:166035
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Visual loss, Nyctalopia, Axonal degeneration, ...	ORPHA:88628
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Peripheral visual field loss, Retinal degeneration	ORPHA:79244
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Retinal degeneration	ORPHA:542306
Axial Spondylometaphyseal Dysplasia	Cataract, Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced v...	ORPHA:168549
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per...	ORPHA:585
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Brain atrophy	OMIM:619059
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Joubert Syndrome 6	Blindness, Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Myopia, Cerebral cortical atrophy, Facial palsy	OMIM:613156
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nyctalopia, Retinal degeneration	OMIM:615630
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Amblyopia, Astigmatism, Abnormality of vi...	OMIM:617523
Myopia 3, Autosomal Dominant	Retinal detachment, High myopia	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment, High myopia	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment, High myopia	OMIM:160700
Intermediate Uveitis	Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ...	ORPHA:279914
Myopia 5, Autosomal Dominant	Retinal detachment, High myopia	OMIM:608474
X-Linked Intellectual Disability, Najm Type	Myopia, Cataract, Optic nerve hypoplasia, Optic atrophy, Chorioretinal coloboma, Cerebral cortica...	ORPHA:163937
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Reduced visual ...	ORPHA:2334
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Cataract, Cerebral visual impairment, Optic atrophy, Cerebral atrophy, Retino...	ORPHA:544469
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism, Retinopathy, Retinal degeneration	OMIM:252600
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Peroxisome Biogenesis Disorder 9B	Cataract, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dy...	OMIM:614879
Infantile Refsum Disease	Constriction of peripheral visual field, Cataract, Facial palsy, Nyctalopia, Optic atrophy, Rod-c...	ORPHA:772
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Visual loss, Optic atrophy, Cerebral atr...	OMIM:256600
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypopigmentation of the skin, Cereb...	ORPHA:1493
Senior-Loken Syndrome 9	Macular degeneration, Rod-cone dystrophy, Retinal dystrophy	OMIM:616629
Joubert Syndrome 9	Cataract, Retinal dystrophy, Astigmatism, Cerebral visual impairment	OMIM:612285
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera...	ORPHA:71505
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina...	OMIM:193235
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Photophobia, Abnorm...	ORPHA:79431
Woolly Hair	Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology	ORPHA:170
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystro...	OMIM:612674
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Myopia, Cataract	ORPHA:1856
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract, Cerebral cortical atrophy	ORPHA:3173
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo...	OMIM:601152
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Cataract, Homonymous hemianopia	ORPHA:79095
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Pallidal degeneration, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral v...	ORPHA:157850
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Cerebral visual impairment, Visual loss, Ce...	ORPHA:52368
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy, Visual impairment	OMIM:608629
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Myopia, Posterior subcapsular cataract, Chorioretinal degeneration	OMIM:615458
Spondylo-Ocular Syndrome	Retinal detachment, Myopia, Aplasia/Hypoplasia of the lens, Cataract, Visual loss, Iris hypopigme...	ORPHA:85194
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma...	ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Myopia, Corneal opacity, Cataract	OMIM:613153
Nephronophthisis 11	Anisocoria, Retinal degeneration	OMIM:613550
Mulibrey Nanism	Pigmentary retinopathy, Iris coloboma, Astigmatism, Corneal dystrophy	OMIM:253250
Bardet-Biedl Syndrome 1	Myopia, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Aganglionic megacol...	OMIM:209900
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Atrophy of the spinal cord, Abnormality of pattern visual evoked potenti...	ORPHA:2822
Knobloch Syndrome	Retinal detachment, Myopia, Cataract, Ectopia lentis, Visual loss, Abnormal vitreous humor morpho...	ORPHA:1571
Lissencephaly 5	Cataract, Optic atrophy	OMIM:615191
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Cafe-au-lait spot, ...	OMIM:250410
Werner Syndrome	Cataract, Retinal degeneration	OMIM:277700
Multiple Sulfatase Deficiency	Cerebellar atrophy, Cerebral atrophy, Corneal opacity, Retinal degeneration	OMIM:272200
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, H...	OMIM:616875
Lowry-Wood Syndrome	Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss	OMIM:226960
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Abnor...	ORPHA:94147
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Myopia, Optic atrophy	ORPHA:2971
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Blindness, Mottled pigmentation of photoexposed areas	OMIM:560000
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Ultra-low vision wi...	OMIM:612109
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Reduced visual acuity, Microcornea, Ocular an...	OMIM:615145
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Srd5A3-Cdg	Cerebellar atrophy, Cataract, Optic disc hypoplasia, Visual loss, Optic atrophy, Spotty hyperpigm...	ORPHA:324737
Wolfram Syndrome 1	Pigmentary retinopathy, Cataract, Optic atrophy, Cerebral atrophy	OMIM:222300
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Muscle-Eye-Brain Disease	Myopia, Cataract, Optic atrophy, Visual impairment	ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio...	OMIM:613154
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Blindness, Reduced visual acuity	ORPHA:3208
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Cataract, Retinal dystrophy, Corpus callosum atrophy, Optic atrophy, Brain at...	OMIM:614877
Flynn-Aird Syndrome	Myopia, Cataract, Rod-cone dystrophy, Cerebral cortical atrophy, Visual impairment	ORPHA:2047
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Cataract, Optic atrophy, Cerebral cortical atrophy	OMIM:617481
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Reduced visual acuity, Pigmentary retinopathy, Visual impairment	OMIM:617282
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling, Cataract	OMIM:614105
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Pseudoxanthoma Elasticum, Forme Fruste	Myopia, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, Macular degener...	OMIM:177850
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary reti...	OMIM:610651
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea	ORPHA:2611
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Hypermetropia	OMIM:617102
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Ast...	ORPHA:480898
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op...	OMIM:120330
Microphthalmia With Brain And Digit Anomalies	Myopia, Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris colo...	ORPHA:139471
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Optic atrophy	OMIM:270800
Cohen Syndrome	Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,...	OMIM:216550
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment	OMIM:616307
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach...	OMIM:221900
Antiphospholipid Syndrome, Familial	Retinal detachment, Keratitis, Visual loss, Vitritis, Central retinal artery occlusion, Retinal v...	OMIM:107320
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Cataract, Moderately reduced visual acuity, Morning glory anomaly, Corpus cal...	ORPHA:98673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Myopia, Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal ...	OMIM:253280
Mepan Syndrome	Cerebellar atrophy, Optic atrophy, Reduced visual acuity, Cerebral atrophy, Abnormality of visual...	ORPHA:508093
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration	OMIM:239000
Lissencephaly 8	Cataract, Optic atrophy	OMIM:617255
Pontocerebellar Hypoplasia, Type 16	Cataract, Optic atrophy, Cerebral cortical atrophy	OMIM:619527
Friedreich Ataxia	Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential...	OMIM:229300
4H Leukodystrophy	Cerebellar atrophy, Myopia, Cataract, Optic atrophy	ORPHA:289494
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh...	ORPHA:79098
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Corneal opacity, ...	OMIM:236670
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, ...	ORPHA:485
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm...	ORPHA:485421
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Reduced visual acuity, Developmental catar...	OMIM:604229
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Visual impairment, Retinal degeneration	OMIM:618479
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy, Visual impairment	ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy, Visual impairment	ORPHA:702
Classic Homocystinuria	Retinal detachment, Myopia, Abnormality of retinal pigmentation, Cataract, Amblyopia, Ectopia len...	ORPHA:394
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Myopia, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy	ORPHA:496790
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Constriction of peripheral visual field, Cataract, Reduced visual acuity, Keratoconjunctivitis, P...	OMIM:240300
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Blindness, Myopia, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormali...	ORPHA:370959
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Retinal dystrophy, High myopia	ORPHA:370997
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Visual ...	OMIM:125310
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Visual loss, Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervous ...	ORPHA:247234
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Optic disc pallor, Myopia, Cataract, Corneal opacity, Subcortical cerebral at...	ORPHA:309288
Sialidosis Type 1	Cataract, Corneal opacity, Decreased nerve conduction velocity, Progressive visual loss, Cherry r...	ORPHA:812
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy	ORPHA:412057
Chromosome 6Pter-P24 Deletion Syndrome	Hypermetropia, Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal stroma, Pet...	OMIM:612582
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Cataract 16, Multiple Types	Retinal dystrophy, Developmental cataract, High myopia, Posterior polar cataract, Lenticonus	OMIM:613763
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock, Visual impairment	ORPHA:742
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c...	OMIM:214110
Proteus-Like Syndrome	Retinal detachment, Myopia, Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperp...	ORPHA:2969
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma	ORPHA:2791
Alstrom Syndrome	Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Photoph...	OMIM:203800
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Myopia, Developmental cataract	OMIM:116600
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Myopia, Hypopigmentation of the fundus, Cataract	ORPHA:163649
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal...	ORPHA:2526
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Blindness, Cataract, Optic atrophy, Rod-cone dystrophy, Cerebral cortical atr...	ORPHA:254913
Stickler Syndrome, Type I	Retinal detachment, Myopia, Blindness, Cataract, Vitreoretinopathy, Membranous vitreous appearanc...	OMIM:108300
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal degeneration	OMIM:248500
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Visual loss, Cataract, Optic atrophy	OMIM:612379
Usher Syndrome Type 3	Cataract, Scotoma, Visual loss, Nyctalopia, Hemianopia, Astigmatism, High hypermetropia, Iris hyp...	ORPHA:231183
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Bardet-Biedl Syndrome	Pigmentary retinopathy	ORPHA:110
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Cataract, Optic atrophy, Opto-chiasmatic atrophy, Visual impairment	OMIM:620089
Warburg Micro Syndrome 2	Cataract, Optic atrophy, Developmental cataract, Undetectable visual evoked potentials, Microcorn...	OMIM:614225
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Blindness, Anterior subcapsular cataract, Cataract, Posterior cortical catara...	ORPHA:67036
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Photophobia, Pseudophakia, Corneal keratic precipitates, Con...	ORPHA:209959
Maternal Uniparental Disomy Of Chromosome 4	Nyctalopia, Optic atrophy, Visual field defect, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:96180
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cataract, Retinal hemorrhage, Hypermetropi...	ORPHA:90324
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ...	ORPHA:899
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Pierson Syndrome	Retinal detachment, Blindness, Rieger anomaly, Remnants of the hyaloid vascular system, Cataract,...	OMIM:609049
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Visual loss, Optic atrophy, Developmental cat...	ORPHA:93400
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Retinal dystrophy, High myopia, Hypoplasia of the iris, Progressive...	OMIM:222448
Hurler Syndrome	Opacification of the corneal stroma, Neurodegeneration, Retinal degeneration, Corneal opacity	OMIM:607014
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Achromatopsia 3	Cataract, Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatops...	OMIM:262300
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Frontal cortic...	ORPHA:2714
Trichothiodystrophy	Myopia, Developmental cataract, Photophobia, Macular degeneration, Numerous pigmented freckles, M...	ORPHA:33364
Marshall Syndrome	Retinal detachment, Myopia, Cataract, Amblyopia, Ectopia lentis, Abnormal vitreous humor morpholo...	ORPHA:560
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Blindness, Diffuse cerebral atrophy, Cataract, Central scotoma, Optic atrophy...	ORPHA:543470
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Reduced visual acu...	ORPHA:790
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop...	ORPHA:79282
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Cataract, Corneal opacity, Nyctalopia...	ORPHA:581
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnor...	ORPHA:35069
Hermansky-Pudlak Syndrome	Myopia, Hypopigmentation of hair, Cataract, Partial albinism, Amblyopia, Ocular albinism, Melanoc...	ORPHA:79430
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action...	OMIM:618733
Warburg Micro Syndrome 3	Cataract, Cerebral visual impairment, Optic atrophy, Developmental cataract, Microcornea, Shallow...	OMIM:614222
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Myopia, Optic atrophy, Abnormality ...	ORPHA:193
Microphthalmia, Syndromic 5	Microcornea, Cataract, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Cataract, Mild myopia, Hypermetropia, High myopia, Degenerative vitreoretinop...	ORPHA:1427
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Visual loss, Optic atrophy, Cherry red spot of the macula	ORPHA:93399
Cockayne Syndrome A	Cerebellar atrophy, Retinal atrophy, Cataract, Abnormal auditory evoked potentials, Decreased ner...	OMIM:216400
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Cataract, Sclerocornea	OMIM:614230
Cockayne Syndrome	Photophobia, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retinal atrophy,...	ORPHA:191
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Ectopia lentis, Microcornea, Iris coloboma	ORPHA:2712
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Cataract, Hypermelanotic macule, Optic atrophy, Photophobia,...	ORPHA:90321
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Global b...	OMIM:234200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Cataract, Retinal dystrophy, High myopia	OMIM:616538
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ...	ORPHA:309256
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Kniest Dysplasia	Retinal detachment, Myopia, Cataract	OMIM:156550
Xq12-Q13.3 Duplication Syndrome	Abnormality of visual evoked potentials, Optic disc pallor	ORPHA:314389
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Corneal opac...	ORPHA:580
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Myopia, Cataract, Optic atrophy, Reduced visual acuity, Ectopia pupillae, Astigmatism	OMIM:618727
Mucopolysaccharidosis, Type Ii	Neurodegeneration, Papilledema, Abnormality of retinal pigmentation	OMIM:309900
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ...	ORPHA:309263
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock, Cataract	ORPHA:902
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C...	ORPHA:466768
Alport Syndrome	Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Macular degeneration, Re...	ORPHA:63
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, High myopia, Pigmentary retinopathy, Peters anomaly, Iris coloboma	OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Myopia, Cataract, Optic atrophy, Hypermetropia, Retinal dysplasia	OMIM:253800
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Cerebral cortical atrophy	ORPHA:192
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Myopia, Cataract, Attenuation of retinal blood vessels	OMIM:614376
Abetalipoproteinemia	Abnormality of retinal pigmentation, Blindness, Scotoma, Nyctalopia, Keratoconjunctivitis sicca, ...	ORPHA:14
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Blindness, Diffuse cerebral atrophy, Decreased ne...	ORPHA:206436
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Astigmatism, Retinal coloboma, Cataract	OMIM:618571
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Myopia, Generalized hyperpigmentation, Corneal opacity, Cata...	ORPHA:636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Infantile Nephropathic Cystinosis	Photophobia, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Rabin-Pappas Syndrome	Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620155
Farber Disease	Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Brain atrophy, Opacificat...	ORPHA:333
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Cerebral cortical atrophy, Reduced visual acuity, Visual impairment	OMIM:277400
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Congenital Tufting Enteropathy	Cataract, Corneal erosion, Optic disc coloboma, Photophobia, Punctate keratitis	ORPHA:92050
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Kapur-Toriello Syndrome	Cataract, Retinal coloboma, Iris coloboma	OMIM:244300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Retinal degeneration	OMIM:208500
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Blindness, Retinal dystrophy, Chorioretinal dysplasia, Scler...	ORPHA:2556
Gaucher Disease, Type I	Macular atrophy, Hyperpigmentation of the skin	OMIM:230800
Khan-Khan-Katsanis Syndrome	Corneal scarring, Buphthalmos, Pigmentary retinopathy, Peters anomaly, Visual impairment	OMIM:618460
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anterio...	ORPHA:91500
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerv...	ORPHA:167
Microphthalmia, Lenz Type	Cataract, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Iris coloboma, Visual impairment	ORPHA:568
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Cowden Syndrome 5	Myopia, Cataract, Angioid streaks of the fundus	OMIM:615108
Marshall Syndrome	Retinal detachment, Myopia, Cataract, Lens luxation, Vitreoretinopathy	OMIM:154780
Cockayne Syndrome B	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hypermet...	OMIM:133540
Spondyloocular Syndrome	Retinal detachment, Cataract, Amblyopia, Posterior subcapsular cataract, Visual impairment	OMIM:605822
Trisomy 18	Microcornea, Abnormality of retinal pigmentation, Cataract, Iris coloboma	ORPHA:3380
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Brushfield spots, Pigmentary retinopathy, Opacification of the corne...	OMIM:214100
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma	ORPHA:3301
Oculocerebral Hypopigmentation Syndrome, Cross Type	Myopia, Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Abnormality of visi...	ORPHA:2719
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ...	ORPHA:309271
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, White hair, Ocular albinism, Photophobia, Generalized hypopigmentation, Iris hypopigmen...	ORPHA:2720
Cowden Syndrome 6	Myopia, Cataract, Angioid streaks of the fundus	OMIM:615109
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials	ORPHA:1389
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Cataract, Optic atrophy, Cerebral atrophy, Atrophy/Degeneration affecting the...	ORPHA:314404
Malignant Atrophic Papulosis	Diplopia, Cataract, Abnormal optic nerve morphology, Amaurosis fugax	ORPHA:679
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Cataract	OMIM:272460
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Ny...	ORPHA:217085
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cerebellar atrophy, Cataract, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary ...	OMIM:614866
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Cataract, Cerebral atrophy, Abnormality of central somatos...	OMIM:213700
Alagille Syndrome 1	Myopia, Posterior embryotoxon, Cataract, Band keratopathy, Chorioretinal atrophy, Microcornea, Pi...	OMIM:118450
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Ny...	ORPHA:217093
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Retinal vascula...	ORPHA:464
Congenital Fibrosis Of Extraocular Muscles	Abnormal visual field test, Cataract, Optic nerve hypoplasia, Amblyopia, Anisocoria, Abnormal bes...	ORPHA:45358
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord, Cataract	OMIM:607459
Bohring-Opitz Syndrome	Retinal atrophy, Optic atrophy, High myopia	ORPHA:97297
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Myopia, Aganglionic megacolon, High hypermetropia, Visual im...	ORPHA:175
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor...	OMIM:243605
Cystinosis, Nephropathic	Hypopigmentation of the skin, Blindness, Hypopigmentation of hair, Retinal pigment epithelial mot...	OMIM:219800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Conjunctivitis, Optic atrophy, Brain atrophy	ORPHA:505248
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Retinal vascular proliferation, Keratitis,...	OMIM:308300
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Melas	Visual loss, Optic atrophy, Pigmentary retinopathy, Brain atrophy, Cerebral cortical atrophy, Vit...	ORPHA:550
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Blindness, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopath...	OMIM:259770
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Retinal pigment epithelial mottling, Progressive vitiligo, Neurodege...	OMIM:251260
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials	ORPHA:320401
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Norrie Disease	Retinal detachment, Blindness, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology,...	ORPHA:649
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Fair hair, Retinal dystrophy, Cataract, Visual loss, Peripheral visual field loss, Macular degene...	OMIM:266920
Say-Barber-Miller Syndrome	Macular degeneration, Rod-cone dystrophy, Optic atrophy	ORPHA:3132
Osteopetrosis With Renal Tubular Acidosis	Cranial nerve compression, Retinal atrophy, Optic atrophy, Abnormal retinal morphology	ORPHA:2785
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ...	ORPHA:404454
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Amblyopia, Lens coloboma, Retinal vascular malfor...	ORPHA:42775
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abn...	ORPHA:909
Acro-Renal-Ocular Syndrome	Cataract, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Chorior...	ORPHA:959
Vici Syndrome	Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Ocular albinism, Developmental cat...	OMIM:242840
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Developmental cataract, ...	ORPHA:79474
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Buphthalmos, Anterio...	OMIM:269400
Blau Syndrome	Cataract, Band keratopathy, Iritis, Cystoid macular edema, Abnormal cranial nerve morphology	OMIM:186580
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Abnormality of visual evoked potentials	ORPHA:1933
Blau Syndrome	Cataract, Facial palsy, Abnormal retinal vascular morphology, Retrobulbar optic neuritis, Visual ...	ORPHA:90340
Proteus Syndrome	Abnormality of retinal pigmentation, Myopia, Generalized hyperpigmentation, Central heterochromia...	ORPHA:744
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Posterior synechiae ...	OMIM:610256
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Nyctalopia, Constriction of peripheral visual field, Macular atrophy	OMIM:619418
Pearson Syndrome	Cataract, Corneal stromal edema, Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of ...	ORPHA:699
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension, Cataract, Developmental cataract	OMIM:606721
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials	OMIM:614457
Charcot-Marie-Tooth Disease, Type 4D	Abnormality of visual evoked potentials	OMIM:601455
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea	OMIM:619869
Autosomal Recessive Malignant Osteopetrosis	Abnormality of visual evoked potentials, Optic nerve compression, Visual impairment	ORPHA:667
Cln5 Disease	Abnormality of visual evoked potentials	ORPHA:228360
Ruvalcaba Syndrome	Abnormality of visual evoked potentials	ORPHA:3121
Late-Infantile/Juvenile Krabbe Disease	Abnormality of visual evoked potentials	ORPHA:206443
Hardikar Syndrome	Pigmentary retinopathy	OMIM:301068
White-Sutton Syndrome	Abnormality of visual evoked potentials, Patent ductus arteriosus	OMIM:616364
Wiedemann-Rautenstrauch Syndrome	Myopia, Cataract, Optic disc hypoplasia, Corneal opacity, Optic atrophy, Hypermetropia, Pigmentar...	ORPHA:3455
Mogs-Cdg	Abnormality of visual evoked potentials	ORPHA:79330
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of visual evoked potentials	ORPHA:258
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina...	ORPHA:64
Metachromatic Leukodystrophy	Abnormality of visual evoked potentials	ORPHA:512
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Abnormality of visual evoked potentials	OMIM:203700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cerkl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cerkl.

No publications found that use IMPC mice or data for Cerkl.

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MGI Allele	Allele Type	Produced
Cerkl^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cerkl^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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