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Gene: Cerkl MGI:3037816

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Gene Summary

Name:
ceramide kinase-like
Synonyms:
Rp26

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IMPC Data Collections

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 Cerkltm1b(KOMP)Wtsi HOM Early adult 1.81×10-05

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Attenuation of retinal blood vessels,... ORPHA:791
Retinitis Pigmentosa 26
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Rod-cone dystrophy... OMIM:608380

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Hypopigmentation of the fundus, Retinal pigment epithelial mottli... ORPHA:75377
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Persistent Placoid Maculopathy
Choroidal neovascularization, Scintillating scotoma, Retinal pigment epithelial mottling, Abnorma... ORPHA:97341
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
X-Linked Retinoschisis
Cataract, Abnormality of vision, Retinoschisis ORPHA:792
Macular Dystrophy, Retinal, 2
Dyschromatopsia, Central scotoma, Reduced visual acuity, Granular macular appearance, Macular dys... OMIM:608051
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Visual impairment, Abnormality of retina... ORPHA:1852
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Visual field defect, Bone spicule pigmentation of the retin... OMIM:613809
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:612712
Grouped Pigmentation Of The Retina
Metamorphopsia, Abnormality of retinal pigmentation OMIM:233800
Blue Cone Monochromatism
Visual impairment, Abnormality of retinal pigmentation, Photophobia, Blue cone monochromacy, Corn... ORPHA:16
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Cleft Lip-Retinopathy Syndrome
Retinopathy, Visual impairment, Abnormality of retinal pigmentation ORPHA:1995
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Bietti Crystalline Dystrophy
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... ORPHA:41751
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Abnormality of vision, Generalized hyperpigmentation, Cataract ORPHA:2253
Progressive Cone Dystrophy
Photophobia, Color vision defect, Visual impairment, Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Visual field d... OMIM:613731
Cone-Rod Dystrophy 5
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... OMIM:600977
Bothnia Retinal Dystrophy
Color vision defect, Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mot... ORPHA:85128
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Visual impairment, Myopia, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:613758
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Progressive visual loss, Nyctalopia, ... ORPHA:180
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Visual impairment, Rod-cone dystrophy ORPHA:1178
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Astigmatism, Reduced visual ... OMIM:300814
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Nyctalop... OMIM:613801
Nanophthalmos
High hypermetropia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Visual impairment, Abnormality of retinal pigmentation ORPHA:2246
Stargardt Disease
Color vision defect, Abnormality of macular pigmentation, Macular degeneration, Retinal pigment e... ORPHA:827
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Retinopathy, Retinal atr... OMIM:180210
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Retinitis Pigmentosa 73
Color vision defect, Constriction of peripheral visual field, Epiretinal membrane, Peripapillary ... OMIM:616544
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, B... OMIM:610951
Retinitis Pigmentosa 9
Cataract, Macular edema, Constriction of peripheral visual field, Bone spicule pigmentation of th... OMIM:180104
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract OMIM:300719
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Constriction of peripheral visual field, Atte... OMIM:613750
Retinitis Pigmentosa 57
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:613582
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment ORPHA:1872
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Ring scotoma, Reduced visual acuity, Bone spicule ... OMIM:607476
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Fundus atrophy, Bone spicule pigmentation of the retina, Ro... OMIM:613428
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Constriction of peripheral visual field, Bull's eye maculopathy... OMIM:312600
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Blindness, R... OMIM:204100
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Visual field defect, Reduced visual... OMIM:614181
Birdshot Chorioretinopathy
Abnormal choroid morphology, Abnormal retinal vascular morphology, Retinal detachment, Optic disc... ORPHA:179
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Nyctalopia, Rod-co... OMIM:614180
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Scotoma, Reduced visual acuity, Optic disc pallor OMIM:165300
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... OMIM:600138
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy, Myopia, Visual impairment ORPHA:75373
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration, Reduced visual ... OMIM:617879
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Constriction of peripheral visual field, P... OMIM:617123
Retinitis Pigmentosa 7
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:608133
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Constriction of peripheral visual field, Cone/cone-rod dystr... OMIM:610478
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Cerebral atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detac... OMIM:251270
Congenital Stationary Night Blindness
Color vision defect, Retinal thinning, Congenital stationary night blindness with abnormal fundus... ORPHA:215
Retinitis Pigmentosa 69
Pigmentary retinopathy, Constriction of peripheral visual field, Perifoveal hypoautofluorescence,... OMIM:615780
Retinitis Pigmentosa 96
Retinal thinning, Constriction of peripheral visual field, Reduced visual acuity, Bone spicule pi... OMIM:620228
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:615725
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Pho... OMIM:600852
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Blindness, Retinopathy, Rod-cone dystrophy, Corticospinal tr... OMIM:551500
Bornholm Eye Disease
Protanopia, High myopia, Abnormality of retinal pigmentation, Astigmatism, Amblyopia, Deuteranopi... OMIM:300843
Foveal Hypoplasia 1
Hypoplasia of the fovea, Visual impairment, Presenile cataracts OMIM:136520
Retinitis Pigmentosa 95
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:620102
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Blindness, Progressive visual loss, Bone spicule pigmentati... OMIM:617781
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Visual acuity no light perception, Bone spicule p... OMIM:618220
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Optic disc pallor,... OMIM:601718
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:617871
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:619007
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Dyschromatopsia, Peripheral retinal atrophy, Central scotoma... OMIM:136550
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Morm Syndrome
Cataract, Progressive night blindness, Retinal atrophy, Visual impairment, Retinal dystrophy ORPHA:75858
Leber Congenital Amaurosis 9
Optic atrophy, Color vision defect, Keratoconus, Retinal pigment epithelial mottling, Ultra-low v... OMIM:608553
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v... OMIM:180100
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Retinitis Pigmentosa 48
Macular degeneration, Visual impairment, Rod-cone dystrophy OMIM:613827
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:600059
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, High myopia, Central scotoma, Cone/cone-rod dystrophy, R... OMIM:615973
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Progressive visual loss, Drusen, Macular scar OMIM:615439
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy, Hypermetropia OMIM:268060
Late-Onset Retinal Degeneration
Choroidal neovascularization, Scotoma, Visual loss, Retinopathy, Retinal degeneration, Chorioreti... OMIM:605670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Blindness, R... OMIM:204000
Retinitis Pigmentosa 92
Pigmentary retinopathy, Constriction of peripheral visual field, Paracentral scotoma, Nyctalopia,... OMIM:619614
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, Rod... OMIM:606068
Usher Syndrome, Type Iv
Constriction of peripheral visual field, Hyperautofluorescent macular lesion, Retinal degeneratio... OMIM:618144
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617460
Retinal Cone Dystrophy 1
Color vision defect, Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy, Progr... OMIM:180020
Pigmented Paravenous Chorioretinal Atrophy
Hypermetropia, Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretin... OMIM:172870
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, High myopia, Vitreous floaters, Retinal detachment, Mildly reduced vi... OMIM:614292
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... OMIM:300029
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Reduced visual acuity, Retinal pigment epithelial mot... ORPHA:506353
Retinitis Pigmentosa 46
Pigmentary retinopathy, Posterior subcapsular cataract, Constriction of peripheral visual field, ... OMIM:612572
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Visual impairment, Retinal degeneration OMIM:618513
Cone-Rod Dystrophy 3
Color vision defect, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye mac... OMIM:604116
Retinitis Pigmentosa 6
Pigmentary retinopathy, Constriction of peripheral visual field, Chorioretinal degeneration, Nyct... OMIM:312612
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Retina... ORPHA:3156
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Reduced visual... OMIM:618826
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, M... ORPHA:90654
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atrophy, Corpus callos... OMIM:619389
Morning Glory Disc Anomaly
Cataract, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia, Retinal detachment ORPHA:35737
Leber Congenital Amaurosis
Keratoconus, Cataract, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Sever... ORPHA:65
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cat... OMIM:611131
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:617304
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:618173
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cataract, Macular degeneration, Cerebral atrophy, Blindness, Retinal degeneration,... OMIM:204200
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Visual impairment, Tractional retinal detachment, R... OMIM:613310
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Color vision defect, Retinal nonattachment, Iris hypopigmentati... ORPHA:99000
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Optic Atrophy 6
Optic atrophy, Retinal degeneration, Red-green dyschromatopsia, Visual impairment, Photophobia OMIM:258500
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:180105
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Chorioretinal dystrophy, Retinal detachment, Myopia, Visual impairment OMIM:600790
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:600105
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Myopia, Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Retinitis Pigmentosa 56
Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ... OMIM:613581
Stickler Syndrome, Type V
Cataract, High myopia, Retinal detachment, Vitreoretinopathy OMIM:614284
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Blindness, Visual loss, Abnormality of retinal pigmentation, Retinal detachment, Lens s... ORPHA:171844
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Canavan Disease
Optic atrophy, Blindness, Abnormality of retinal pigmentation, Visual impairment, Abnormality of ... ORPHA:141
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Abnormality of macular pigmentation, Visual impairment, Central scotoma, Ast... OMIM:300476
Retinitis Pigmentosa 43
Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Per... OMIM:613810
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Constriction of peripheral visual field, Central scotoma, Reduced... OMIM:615233
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:602772
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Myopia, Iris coloboma, Ectopia lentis, Abnormality of retinal pigmentation ORPHA:1259
Acute Zonal Occult Outer Retinopathy
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Rod-con... ORPHA:284454
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Leber Congenital Amaurosis 16
Cataract, Visual field defect, Reduced visual acuity, Nyctalopia, Optic disc pallor, Visual impai... OMIM:614186
Jalili Syndrome
Visual impairment, Retinal pigment epithelial mottling, Scotoma, Attenuation of retinal blood ves... OMIM:217080
Vitreoretinochoroidopathy
Color vision defect, Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Dyschr... OMIM:193220
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal ... OMIM:605750
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Constriction of peripheral visua... OMIM:600132
Retinitis Pigmentosa 60
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:613983
Aplasia Cutis-Myopia Syndrome
High myopia, Abnormality of retinal pigmentation ORPHA:1117
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Pericentral scotoma, Par... OMIM:609021
Cofs Syndrome
Optic atrophy, Cataract, Cerebral cortical atrophy, Abnormality of retinal pigmentation, Visual i... ORPHA:1466
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Peripheral vi... OMIM:612095
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinitis Pigmentosa 51
Macular degeneration, High myopia, Attenuation of retinal blood vessels, Reduced visual acuity, B... OMIM:613464
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Reduced v... OMIM:616188
Eem Syndrome
Abnormality of vision, Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Peripheral visual field loss, Chorio... OMIM:618697
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior synechiae of the anterior chamber, Reduced visual acuity, Retinal detachment, Retinal p... ORPHA:364055
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b... OMIM:616469
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Diprosopus
Abnormality of vision, Abnormality of retinal pigmentation ORPHA:1681
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Constriction of peripheral visual field, Rod-cone dystrophy, Vi... OMIM:614307
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Myopia 28, Autosomal Recessive
Cataract, High myopia, Retinal detachment OMIM:619781
Narp Syndrome
Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Co... ORPHA:644
Jalili Syndrome
Optic atrophy, Color vision defect, Abnormality of retinal pigmentation, Photophobia, Visual impa... ORPHA:1873
Sjögren-Larsson Syndrome
Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Visual loss, Retinopath... ORPHA:94058
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Attenuatio... OMIM:617547
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Metamor... ORPHA:209956
Retinitis Pigmentosa 70
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... OMIM:615922
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Blindness... OMIM:605549
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Nyctalopia, Reduced visual acuity, Retinal dystrophy, Cataract OMIM:610156
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone sp... OMIM:613617
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Progressive visual loss OMIM:164500
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Reduced visual acuity, Retinal detachment, ... OMIM:613194
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Leber Congenital Amaurosis 6
Cataract, Keratoconus, High hypermetropia, Attenuation of retinal blood vessels, Photophobia, Sev... OMIM:613826
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Visual impairment, Progressive cataract, Optic nerve dysplasia OMIM:246000
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology, ... ORPHA:1390
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Blurred vision, Vit... ORPHA:209943
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Myopia, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Reduced visual acui... OMIM:309300
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Moderate myopia,... OMIM:300578
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Myopia, Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis, Nyctalopia, He... OMIM:268100
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Peripheral visual field loss, Reduced visual acuity, Bone s... OMIM:613756
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Severely reduced visual acuity, Epi... ORPHA:891
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Cerebellar atrophy, Cerebral atrophy, Retinopathy, Macular ... OMIM:616171
Myopia 17, Autosomal Dominant
Presenile cataracts, High myopia, Retinal hole OMIM:608367
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Constriction of peripheral visual field, Retinal degeneration, Hype... OMIM:267760
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 45
Macular degeneration, Peripheral visual field loss, Bone spicule pigmentation of the retina, Nyct... OMIM:613767
Bardet-Biedl Syndrome 3
Nyctalopia, Pigmentary retinopathy, Visual impairment, Rod-cone dystrophy OMIM:600151
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Peripheral visual field loss, Mixed astigmatism, Bone spicu... OMIM:617023
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, High myopia, Macular hypoplasia, R... OMIM:610202
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Reduced visual acuity, Microcornea, Rod-cone dystrophy OMIM:619082
Leber Congenital Amaurosis 15
Color vision defect, Pigmentary retinopathy, Posterior subcapsular cataract, Photophobia, Constri... OMIM:613843
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Constriction of peripheral visual field, Blindness, Chorio... ORPHA:414
Cone-Rod Dystrophy 10
Macular degeneration, Peripheral visual field loss, Attenuation of retinal blood vessels, Bone sp... OMIM:610283
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Cone-Rod Dystrophy 6
Dyschromatopsia, Attenuation of retinal blood vessels, Peripheral visual field loss, Chorioretina... OMIM:601777
Retinitis Pigmentosa
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Attenuation of retinal blood vessels,... ORPHA:791
Retinitis Pigmentosa 23
Color vision defect, Posterior subcapsular cataract, Severely reduced visual acuity, Constriction... OMIM:300424
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... OMIM:613660
Neonatal Adrenoleukodystrophy
Optic atrophy, Visual impairment, Abnormality of retinal pigmentation, Cataract ORPHA:44
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Nyctalopia,... ORPHA:5
Waardenburg-Shah Syndrome
Abnormality of vision, Abnormal macular morphology, Premature graying of hair, White forelock, Ab... ORPHA:897
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Constriction of peripheral visual field, Progressive visual loss, Rod... OMIM:613862
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Blind... OMIM:133780
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Visual impairment, Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Ataxia With Vitamin E Deficiency
Nyctalopia, Visual impairment, Abnormality of retinal pigmentation, Abnormality of visual evoked ... ORPHA:96
Autosomal Recessive Stickler Syndrome
Cataract, Vitreoretinopathy, Astigmatism, Amblyopia, Retinal detachment, Myopia ORPHA:250984
Choroidal Atrophy-Alopecia Syndrome
Visual impairment, Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigme... ORPHA:1433
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Metamorphopsia, Iris melanoma, Visual loss, Abnormal fundus... ORPHA:39044
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Blindness,... OMIM:609033
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, High myopia, Retinal detachment, Iris transilluminati... OMIM:225200
Ramon Syndrome
Abnormal anterior chamber morphology, Abnormality of retinal pigmentation ORPHA:3019
Retinitis Pigmentosa 74
Posterior polar cataract, Pigmentary retinopathy, Constriction of peripheral visual field, Reduce... OMIM:616562
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinitis Pigmentosa 26
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Rod-cone dystrophy... OMIM:608380
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy, Cerebral visual impairment OMIM:618234
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Congenital Toxoplasmosis
Visual impairment, Abnormality of retinal pigmentation ORPHA:858
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Abnormal best corrected visual acuity test, Cataract, Corneal keratic precipi... ORPHA:263479
Vogt-Koyanagi-Harada Disease
Cataract, Hypopigmented skin patches, Premature graying of hair, Vitiligo, Retinal detachment, Vi... ORPHA:3437
Congenital Rubella Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Corneal opacity, V... ORPHA:290
Stickler Syndrome Type 1
Cataract, Visual loss, Abnormal vitreous humor morphology, Retinal detachment, Myopia ORPHA:90653
Mucolipidosis Type Iv
Photophobia, Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Aniridia 2
Optic atrophy, Cataract, Aniridia, Amblyopia, Lens subluxation, Iris coloboma OMIM:617141
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Subcapsular cataract, Rod-cone dyst... OMIM:268020
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Posterior subcapsular cataract, Foveoschisis, Blindness, Chorioretinal atroph... OMIM:258870
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Dyschromatopsia, Central retinal exudate, Progressive visual los... OMIM:264420
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Abnormality of vision, Posterior synechiae of the anterio... ORPHA:280921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Blindness, Retinal detachment, Myopia, Optic nerve hypoplasia OMIM:615181
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Myopia, Asteroid hyalosis, Cataract, Retinal thinning OMIM:132450
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Corpus Callosum Agenesis-Neuronopathy Syndrome
Myopia, Abnormality of retinal pigmentation ORPHA:1496
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Nance-Horan Syndrome
Cataract, Microcornea, Visual loss, Retinal detachment, Visual impairment ORPHA:627
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy, Myopia ORPHA:370968
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Astigmatism, Hypermetropia, Retinal fold, Kerat... OMIM:108145
Isolated Aniridia
Cataract, Peters anomaly, Aniridia, Visual loss, Aplasia/Hypoplasia of the macula ORPHA:250923
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Reduced visual acuity, Lens subluxation, Iris co... OMIM:216820
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Tritanomaly, Patchy atrophy of the retinal pigment epit... ORPHA:67042
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Nyctalopia, Myopia, Hemeralopia, Congenital stationary n... OMIM:257270
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Oculopharyngodistal Myopathy 3
Photophobia, Pigmentary retinopathy OMIM:619473
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Usher Syndrome
Cerebral cortical atrophy, Cataract, High hypermetropia, Blindness, Abnormality of retinal pigmen... ORPHA:886
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Peripheral visual field loss, Bone spicule pigmentation of the retina, R... OMIM:268315
Refsum Disease
Cataract, Abnormality of vision, Abnormality of retinal pigmentation, Retinopathy, Progressive vi... ORPHA:773
Achondrogenesis Type 2
Cataract, Abnormal vitreous humor morphology, Retinal detachment, Lens subluxation, Myopia ORPHA:93296
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Flynn-Aird Syndrome
Myopia, Rod-cone dystrophy, Cataract OMIM:136300
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Reduced visual acuity, Ret... OMIM:152950
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract ORPHA:329314
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Blindness, Opacification of the corneal stroma, ... OMIM:310600
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Cataract, Myopia, Retinal dysplasia, Visual impairment ORPHA:272
Stickler Syndrome, Type Ii
Cataract, High myopia, Abnormal vitreous humor morphology, Retinal detachment, Myopia OMIM:604841
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Visual impairment, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:2518
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract ORPHA:324416
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Photophobia, Retinopathy, Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Lowry-Wood Syndrome
Astigmatism, Visual impairment, Abnormality of retinal pigmentation ORPHA:1824
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Constriction of peripheral visual field, High myopi... OMIM:210370
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Constriction of peripheral visual field, Progressive night... ORPHA:436245
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy, Visual impairment OMIM:252011
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Cataract, Hypopigmented skin patches, Abnormality of retinal pigmentation, Abnorma... ORPHA:2715
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Uveal ectropion, Optic nerve ... OMIM:617319
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Blindness, Visual loss, Retinal deg... ORPHA:79264
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Visual loss, Axonal... ORPHA:88628
Multiple Sulfatase Deficiency
Optic atrophy, Cataract, Abnormality of retinal pigmentation, Abnormality of peripheral nerve con... ORPHA:585
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, High hyperme... OMIM:619260
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Micro Syndrome
Optic atrophy, Cerebral cortical atrophy, Cataract, Microcornea, Retinal coloboma, Abnormality of... ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy, Myopia OMIM:613156
Stickler Syndrome, Type Iv
Cataract, High myopia, Astigmatism, Chorioretinal degeneration, Rhegmatogenous retinal detachment... OMIM:614134
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Cerebral cortical atrophy, Cataract, Chorioretinal coloboma, Myopia, Visual impair... ORPHA:163937
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Blindness, Rod-cone dystrophy ORPHA:216866
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
High myopia, Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Reduced visual acuity, Developmenta... OMIM:616722
Prune1-Related Neurological Syndrome
Optic atrophy, Cataract, Cerebellar atrophy, Cerebral atrophy, Retinopathy, Cerebral visual impai... ORPHA:544469
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Peroxisome Biogenesis Disorder 9B
Cataract, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia, Rod-cone dy... OMIM:614879
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Diplopia, Macular degeneration, Cerebellar atrophy, Tortuosity of conjunctival vessels ORPHA:284289
Infantile Refsum Disease
Optic atrophy, Cataract, Visual impairment, Constriction of peripheral visual field, Rod-cone dys... ORPHA:772
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, B... OMIM:193235
Vici Syndrome
Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Cataract, Abnormal macula... ORPHA:1493
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Posterior subcapsular cataract, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy, Optic... OMIM:615434
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
Joubert Syndrome 9
Cataract, Cerebral visual impairment, Astigmatism, Retinal dystrophy OMIM:612285
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Cataract, Cerebellar atrophy, Decreased nerve conduction velocity, Subcapsular cat... OMIM:612674
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cerebral cortical atrophy, Cataract ORPHA:3173
Woolly Hair
Cataract, Hypopigmentation of hair, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Joubert Syndrome 3
Pigmentary retinopathy, Visual impairment, Retinal dystrophy OMIM:608629
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Myopia, Retinal detachment, Cataract ORPHA:1856
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy, Homonymous hemianopia ORPHA:79095
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal ... ORPHA:2481
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Myopia, Microcornea, Chorioretinal degeneration, Posterior subcapsular cataract OMIM:615458
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Visual loss, Retinal detachment, Aplasia/Hypoplasia of the lens,... ORPHA:85194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Myopia, Retinal detachment, Corneal opacity, Cataract OMIM:613153
Srd5A3-Cdg
Optic atrophy, Cataract, Cerebellar atrophy, Optic disc hypoplasia, Spotty hyperpigmentation, Vis... ORPHA:324737
Refsum Disease, Classic
Nyctalopia, Cataract, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Leigh Syndrome, Nuclear
Optic atrophy, Pigmentary retinopathy OMIM:256000
Lowry-Wood Syndrome
Pigmentary retinopathy, Peripheral visual field loss, Nyctalopia OMIM:226960
Mulibrey Nanism
Astigmatism, Pigmentary retinopathy, Iris coloboma, Corneal dystrophy OMIM:253250
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Cerebellar atrophy OMIM:619780
Lissencephaly 5
Optic atrophy, Cataract OMIM:615191
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Blindness, Mottled pigmentation of photoexposed areas OMIM:560000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,... ORPHA:85167
Bardet-Biedl Syndrome 17
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615994
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Congenital Primary Aphakia
Corneal perforation, Abnormality of vision, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia aff... ORPHA:83461
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Dyschromatopsia, Retinal atrophy, Photophobia, Visual impairment, Hemeralopia OMIM:617236
Retinitis Pigmentosa 97
Macular degeneration, Iris atrophy, Reduced visual acuity, Amblyopia, Nyctalopia, Rod-cone dystrophy OMIM:620422
Microphthalmia/Coloboma 9
Microcornea, Reduced visual acuity, Retinal detachment, Ocular anterior segment dysgenesis, Scler... OMIM:615145
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypermetropia, Retinal pigment epithelial mottling OMIM:617102
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Reduced visual acuity, Blindness ORPHA:3208
Muscle-Eye-Brain Disease
Optic atrophy, Visual impairment, Myopia, Cataract ORPHA:588
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cerebral atrophy, Cataract OMIM:222300
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Cerebellar atrophy, Cerebral cortical atrophy, Cataract OMIM:617481
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Pigmentary retinopathy, Cataract, Cerebellar atrophy, Decreased nerve conduction v... OMIM:610651
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Cataract, Cerebellar atrophy, Cerebellar vermis atrophy, Corpus callosum atrophy, ... OMIM:614877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental... OMIM:613154
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Pigmentary retinopathy, Reduced visual acuity, Optic disc pallor, Visual impairment OMIM:617282
Flynn-Aird Syndrome
Cerebral cortical atrophy, Cataract, Rod-cone dystrophy, Myopia, Visual impairment ORPHA:2047
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Iris coloboma ORPHA:2611
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Chorioretinal dystrophy, Reduced visual acuity, Bone spicu... OMIM:216550
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Myopia, Iris coloboma, Retinal dystr... ORPHA:139471
Spastic Paraplegia 5A, Autosomal Recessive
Optic atrophy, Cataract OMIM:270800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Ultra-... OMIM:221900
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Color vision defect, Cataract, Cerebellar atrophy, Central scotoma, Moderately red... ORPHA:98673
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, Retinal pigment epithelial mottling OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Reduced visual acuity, Visual impairment, Retinal degeneration OMIM:615249
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract OMIM:613730
Antiphospholipid Syndrome, Familial
Keratitis, Central retinal artery occlusion, Visual loss, Blurred vision, Retinal vasculitis, Ret... OMIM:107320
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Cerebral cortical atrophy, Cataract OMIM:619527
4H Leukodystrophy
Optic atrophy, Myopia, Cerebellar atrophy, Cataract ORPHA:289494
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Lissencephaly 8
Optic atrophy, Cataract OMIM:617255
Amoebic Keratitis
Corneal perforation, Cataract, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Red... OMIM:604229
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Cataract, Dyschromatopsia, Reduced visual acuity,... ORPHA:168549
Knobloch Syndrome
Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Visual loss, Abnormal vitreous... ORPHA:1571
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Pallidal degeneration, Peripheral ... ORPHA:157850
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Visual impairment, Cataract ORPHA:1914
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620157
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Cataract, Cerebellar atrophy, Corneal opacity, Myopia, Optic nerve hypoplasia ORPHA:496790
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Pigmentary retinopathy, Constriction of peripheral visual field, Vitiligo, Keratoconjun... OMIM:240300
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Cataract, Ectopia lentis, Abnormality of retinal pigmentation, Amblyopia, Retinal ... ORPHA:394
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Blindness, Retinal detachment... ORPHA:370959
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, High myopia, Buphthalmos, Retinal dystrophy ORPHA:370997
Alpha-Mannosidosis, Adult Form
Cerebral cortical atrophy, Cataract, Cerebellar atrophy, Myopia, Corneal opacity, Optic disc pall... ORPHA:309288
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Hypermetropia, O... OMIM:612582
Sialidosis Type 1
Cataract, Cherry red spot of the macula, Decreased nerve conduction velocity, Retinopathy, Progre... ORPHA:812
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Prolidase Deficiency
Visual impairment, White forelock, Abnormality of retinal pigmentation ORPHA:742
Cataract 16, Multiple Types
Posterior polar cataract, High myopia, Lenticonus, Developmental cataract, Retinal dystrophy OMIM:613763
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic nerve dysplasia, Bru... OMIM:214110
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy, Optic atrophy, Dyschromatopsia, Foveal hyporeflective spaces on macul... ORPHA:71505
Proteus-Like Syndrome
Cataract, Irregular hyperpigmentation, Abnormal pupil morphology, Heterochromia iridis, Retinal d... ORPHA:2969
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Scotoma, Visual loss, Astigmatism, Nyctalopia, Hemianopia, High ... ORPHA:231183
Stickler Syndrome, Type I
Cataract, Vitreoretinopathy, Blindness, Membranous vitreous appearance, Retinal detachment, Retin... OMIM:108300
Cataract 6, Multiple Types
Posterior polar cataract, Myopia, Developmental cataract, Choroideremia OMIM:116600
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormality of vision, Cataract, Abnormal optic nerve morphology, Blindness, Visua... ORPHA:2526
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Myopia, Retinal detachment, Hypopigmentation of the fundus, Cataract ORPHA:163649
Otodental Syndrome
Cataract, Microcornea, Retinal coloboma, Lens coloboma, Iris coloboma ORPHA:2791
Isolated Atp Synthase Deficiency
Optic atrophy, Cerebral cortical atrophy, Cataract, Cerebellar atrophy, Blindness, Rod-cone dystr... ORPHA:254913
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Cataract, Cerebellar atrophy, Opto-chiasmatic atrophy, Visual impairment OMIM:620089
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Schwannomatosis, Vestibular
Cataract, Inguinal freckling, Axillary freckling, Diplopia, Bilateral vestibular schwannoma, Post... OMIM:101000
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Visual loss, Abnormality of skin pigmentation, Cataract OMIM:612379
Bardet-Biedl Syndrome 1
Cataract, Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Peripheral v... OMIM:209900
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal... ORPHA:209959
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cataract, Posterior subcapsular cataract, Cerebellar atrophy, Cerulean cataract, A... ORPHA:67036
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... OMIM:106210
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Walker-Warburg Syndrome
Optic atrophy, Cataract, Microcornea, Abnormal optic nerve morphology, Retinal detachment, Cornea... ORPHA:899
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Visual field defect, Nyctalopia, Rod-cone dystrophy ORPHA:96180
Papillorenal Syndrome
Cataract, Macular degeneration, Lens luxation, Optic disc coloboma, Retinal coloboma, High myopia... OMIM:120330
Oculo-Palato-Cerebral Syndrome
Cataract, Global brain atrophy, Frontal cortical atrophy, Leukocoria, Retinal detachment, Remnant... ORPHA:2714
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Hi... OMIM:609049
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Donnai-Barrow Syndrome
Cataract, Hypoplasia of the iris, High myopia, Progressive visual loss, Retinal detachment, Iris ... OMIM:222448
Achromatopsia 3
Cataract, Dyschromatopsia, High myopia, Moderately reduced visual acuity, Achromatopsia, Monochro... OMIM:262300
Warburg Micro Syndrome 2
Optic atrophy, Microcornea, Global brain atrophy, Undetectable visual evoked potentials, Cataract... OMIM:614225
Congenital Sialidosis Type 2
Optic atrophy, Cataract, Cherry red spot of the macula, Visual loss, Hypoplasia of the fovea, Yel... ORPHA:93400
Marshall Syndrome
Cataract, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morphology, Amblyopia, Retin... ORPHA:560
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Optic atrophy, Cataract, Cerebellar atrophy, Blindness, Central scotoma, Diffuse cerebral atrophy... ORPHA:543470
Retinoblastoma
Hypopyon, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobl... ORPHA:790
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Kniest Dysplasia
Cataract, Lens luxation, Vitreoretinopathy, High myopia, Retinal detachment, Rhegmatogenous retin... ORPHA:485
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Chorioreti... OMIM:618733
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormality of skin ... ORPHA:193
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Papilledema, Abnormality of retinal pigmentation OMIM:309900
Warburg Micro Syndrome 3
Optic atrophy, Microcornea, Cerebral cortical atrophy, Cataract, Cerebral visual impairment, Deve... OMIM:614222
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Cataract, Visual impairment, Abnormality of peripheral ner... ORPHA:90321
Chromosome 8Q21.11 Deletion Syndrome
Sclerocornea, Cataract, Pigmentary retinopathy OMIM:614230
Juvenile Sialidosis Type 2
Optic atrophy, Cataract, Cherry red spot of the macula, Visual loss, Corneal opacity ORPHA:93399
Microphthalmia, Syndromic 5
Cataract, Microcornea, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Kniest Dysplasia
Myopia, Retinal detachment, Cataract OMIM:156550
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Ectopia lentis, Retinal detachment, Iris coloboma ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, High myopia, Buphthalmos, Retinal dystrophy OMIM:616538
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Abnormal optic nerve morphology, O... ORPHA:79430
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Cataract, Ectopia pupillae, Astigmatism, Reduced visual acuity, Myopia OMIM:618727
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Werner Syndrome
Cataract, White forelock, Abnormality of retinal pigmentation, Premature graying of hair ORPHA:902
Amyloidosis, Finnish Type
Cataract, Optic neuropathy, Orthostatic hypotension, Lattice corneal dystrophy OMIM:105120
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Cataract, Cerebellar atrophy, Dyschromatopsia, Abnormal motor nerve conduction velocity, Abnormal... ORPHA:466768
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Myopia, Attenuation of retinal blood vessels, Cataract OMIM:614376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Cataract, Retinal detachment, Hypermetropia, Myopia, Retinal dysplasia OMIM:253800
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Pigmentary retinopathy, Peters anomaly, High myopia, Sclerocornea, Iris coloboma OMIM:309801
Coffin-Lowry Syndrome
Optic atrophy, Cataract, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:192
Abetalipoproteinemia
Color vision defect, Hypopigmentation of the fundus, Scotoma, Blindness, Abnormality of retinal p... ORPHA:14
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Axenfeld anomaly OMIM:266270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Cataract, Peters anomaly, Megalocornea, Blindness, Buphthalmos, Retinal atrophy, R... OMIM:236670
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Astigmatism, Retinal coloboma OMIM:618571
Alstrom Syndrome
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:203800
Infantile Nephropathic Cystinosis
Photophobia, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals ORPHA:411629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Rabin-Pappas Syndrome
Cataract, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia OMIM:620155
Congenital Tufting Enteropathy
Cataract, Optic disc coloboma, Punctate keratitis, Photophobia, Corneal erosion ORPHA:92050
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Blindness, Visual loss, Abnormality of retinal pigmentation, Abnormal... ORPHA:2556
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebellar atrophy, R... OMIM:216400
Kapur-Toriello Syndrome
Cataract, Iris coloboma, Retinal coloboma OMIM:244300
Cockayne Syndrome
Lentiglobus, Hypermetropia, Optic disc pallor, Corneal ulceration, Retinal dystrophy, Cataract, A... ORPHA:191
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Peripheral visual field loss, Retinopathy, Ab... ORPHA:580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cataract, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Buphthalmo... OMIM:253280
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy, Peters anomaly, Corneal scarring, Buphthalmos, Visual impairment OMIM:618460
Microphthalmia, Lenz Type
Cataract, Microcornea, Optic disc coloboma, Chorioretinal coloboma, Visual impairment, Iris coloboma ORPHA:568
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Choroidal neovascularization, Macular edema, Posterior synechiae of the anter... ORPHA:91500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Aicardi Syndrome
Optic atrophy, Optic disc coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation, ... ORPHA:50
Marshall Syndrome
Cataract, Vitreoretinopathy, Retinal detachment, Myopia, Lens luxation OMIM:154780
Neurofibromatosis Type 1
Cataract, Inguinal freckling, Abnormality of vision, Hypopigmented skin patches, Chorioretinal co... ORPHA:636
Cowden Syndrome 5
Myopia, Angioid streaks of the fundus, Cataract OMIM:615108
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Cerebellar atrophy, Spotty hyperpigmentation... ORPHA:167
Mucopolysaccharidosis Type 3
Optic atrophy, Pigmentary retinopathy, Central nervous system degeneration, Cataract, Constrictio... ORPHA:581
Spondyloocular Syndrome
Cataract, Posterior subcapsular cataract, Amblyopia, Retinal detachment, Visual impairment OMIM:605822
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Microcornea, Cerebral... OMIM:133540
Trisomy 18
Cataract, Microcornea, Iris coloboma, Abnormality of retinal pigmentation ORPHA:3380
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cerebral cortical atrophy, Pigmentary retinopathy, Cataract, Opacification of the corneal stroma,... OMIM:214100
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Abnormality of vision, Ocular albinism, Choroideremia, Corneal o... ORPHA:2719
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Cataract, Septo-optic dysplasia, Iris coloboma ORPHA:3301
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Photo... ORPHA:2720
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Peripheral visual field loss, Abnormality of retinal pigmentation, Retinopathy, Pa... ORPHA:217085
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Cerebral atrophy, Ret... ORPHA:79282
Cowden Syndrome 6
Myopia, Angioid streaks of the fundus, Cataract OMIM:615109
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Cataract, Cerebellar atrophy, Cerebral atrophy, Atrophy/Degeneration affecting the... ORPHA:314404
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Global brain atrophy, Neurodegeneration, Retinal degenerat... OMIM:234200
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Peripheral visual field loss, Abnormality of retinal pigmentation, Retinopathy, Pa... ORPHA:217093
Spondylocarpotarsal Synostosis Syndrome
Cataract, Abnormality of retinal pigmentation OMIM:272460
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic atrophy, Pigmentary retinopathy, Cataract, Cerebellar atrophy, Cerebellar vermis atrophy, O... OMIM:614866
Alagille Syndrome 1
Cataract, Pigmentary retinopathy, Microcornea, Band keratopathy, Chorioretinal atrophy, Axenfeld ... OMIM:118450
Malignant Atrophic Papulosis
Cataract, Diplopia, Amaurosis fugax, Abnormal optic nerve morphology ORPHA:679
Incontinentia Pigmenti
Cerebral cortical atrophy, Cataract, Irregular hyperpigmentation, Keratitis, Hypopigmented skin p... ORPHA:464
Cerebrotendinous Xanthomatosis
Cataract, Cerebellar atrophy, Cerebral atrophy, Delayed somatosensory central conduction time, Op... OMIM:213700
Cartilage-Hair Hypoplasia
High hypermetropia, Abnormality of retinal pigmentation, Aganglionic megacolon, Myopia, Visual im... ORPHA:175
Congenital Fibrosis Of Extraocular Muscles
Cataract, Abnormal best corrected visual acuity test, Abnormal pupil shape, Abnormal visual field... ORPHA:45358
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Atrophy/Degeneration involving the spinal cord, Retinal pigment epithelial mottling OMIM:607459
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Pigmentary retinopathy, Reduced visual acuity, Visual impairment OMIM:277400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Conjunctivitis, Optic atrophy, Brain atrophy, Abnormality of retinal pigmentation ORPHA:505248
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Sclerocornea, Iris coloboma, ... OMIM:243605
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia... OMIM:219800
Incontinentia Pigmenti
Optic atrophy, Cataract, Keratitis, Hypoplasia of the fovea, Retinal vascular proliferation, Reti... OMIM:308300
Melas
Optic atrophy, Pigmentary retinopathy, Cerebral cortical atrophy, Vitiligo, Visual loss, Brain at... ORPHA:550
Nijmegen Breakage Syndrome
Progressive vitiligo, Retinal pigment epithelial mottling, Neurodegeneration, Conjunctival telang... OMIM:251260
Osteoporosis-Pseudoglioma Syndrome
Cataract, Vitreoretinopathy, Congenital blindness, Blindness, Iris atrophy, Exudative retinopathy... OMIM:259770
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:255210
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Premature graying of hair, Photophobia, Abnormality of periph... ORPHA:90324
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Corneal scarring, Co... ORPHA:404454
Norrie Disease
Optic atrophy, Cerebral cortical atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Blind... ORPHA:649
Phace Syndrome
Retinal vascular malformation, Cataract, Heterochromia iridis, Amblyopia, Sclerocornea, Lens colo... ORPHA:42775
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Optic disc hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Agangl... ORPHA:959
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Reduced visual acuity, Ocular ... OMIM:269400
Blau Syndrome
Cataract, Band keratopathy, Abnormal cranial nerve morphology, Cystoid macular edema, Iritis OMIM:186580
Blau Syndrome
Cataract, Keratitis, Abnormal optic nerve morphology, Abnormal cranial nerve morphology, Retinopa... ORPHA:90340
Lipodystrophy, Familial Partial, Type 7
Cataract, Pigmentary retinopathy, Orthostatic hypotension, Developmental cataract OMIM:606721
Pearson Syndrome
Cataract, Pigmentary retinopathy, Corneal stromal edema, Hyperpigmentation of the skin, Cafe-au-l... ORPHA:699
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Peters anomaly, Aniridia, Red... OMIM:610256
Neurocardiofaciodigital Syndrome
Sclerocornea, Optic disc pallor, Cataract OMIM:619869
Proteus Syndrome
Cataract, Retinal nonattachment, Irregular hyperpigmentation, Chorioretinal coloboma, Central het... ORPHA:744
Atypical Werner Syndrome
Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Retinal degenerat... ORPHA:79474
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Optic disc hypoplasia, Hypermetropia, Corneal op... ORPHA:3455

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
Cerkltm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cerkltm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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