Gene Summary

Name:
ceramide kinase-like
Synonyms:
Rp26

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Cerkltm1b(KOMP)Wtsi HOM Early adult 1.70×10-05

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Viewing: all phenotypes

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.

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

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

Disease Similarity of
phenotypes
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