Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
prominin 1
Synonyms:
4932416E19Rik,  Prom-1,  Prom,  AC133,  CD133

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Prom1 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 predicted to be associated to Prom1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Bardet-Biedl Syndrome 13
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:615990
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... OMIM:608051
Retinitis Pigmentosa 39
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613809
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Choroideremia
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... OMIM:303100
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Central Areolar Choroidal Dystrophy
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... ORPHA:75377
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Liberfarb Syndrome
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... OMIM:618889
Retinitis Pigmentosa 30
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:607921
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinitis Pigmentosa 57
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613582
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Retinitis Pigmentosa 33
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:610359
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 54
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Pigmentary r... OMIM:610951
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 61
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 81
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... OMIM:617871
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Corticospinal tract atrophy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 62
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:614181
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 95
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... OMIM:620102
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:613801
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Retinal dystrophy, Drusen OMIM:267800
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Retinitis Pigmentosa 76
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... OMIM:617123
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615725
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 17
Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:600852
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Retinitis Pigmentosa 11
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... OMIM:600138
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Bothnia Retinal Dystrophy
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... ORPHA:85128
Retinitis Pigmentosa 90
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:619007
Retinitis Pigmentosa 28
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:606068
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Cerebellar atrophy, Optic disc pa... OMIM:619389
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation OMIM:136550
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... OMIM:251270
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... OMIM:618697
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 88
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:618826
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... OMIM:304020
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
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, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 19
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:601718
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:619090
Stargardt Disease 3
Macular flecks, Macular atrophy, Macular dystrophy OMIM:600110
Usher Syndrome, Type Iv
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... OMIM:618144
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Leber Congenital Amaurosis 19
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels OMIM:618513
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Achromatopsia
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... ORPHA:49382
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:617460
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... OMIM:618195
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Leber Congenital Amaurosis 2
Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, Pigmentary retinopathy, ... OMIM:204100
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Retinitis Pigmentosa 73
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... OMIM:616544
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Canavan Disease
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Retinitis Pigmentosa 1
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180100
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... OMIM:619531
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Chorioretinal atrophy, Macular coloboma, Pigmentary retinopathy, Nummul... OMIM:613835
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy, Central heterochromia OMIM:275400
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... OMIM:604116
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor OMIM:612572
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 12
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:600105
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Leber Congenital Amaurosis 9
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... OMIM:608553
Retinitis Pigmentosa 41
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:612095
Retinitis Pigmentosa 2
Rod-cone dystrophy, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Pigmentar... OMIM:312600
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation ORPHA:2196
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Retinitis Pigmentosa 77
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617304
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Increased extraneuronal aut... OMIM:204500
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment, Abnormal macular morphology, Retinal arteriol... ORPHA:90050
Spinocerebellar Ataxia 7
Macular degeneration, Pigmentary retinopathy, Optic atrophy OMIM:164500
Retinitis Pigmentosa 83
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... OMIM:618173
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Cone-Rod Dystrophy 11
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Abnormality of retinal pigmentation ORPHA:397951
Leber Congenital Amaurosis 1
Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:204000
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor OMIM:609021
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... OMIM:145350
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Retinitis Pigmentosa 49
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613756
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Retinitis Pigmentosa 58
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613617
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... ORPHA:79435
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Posterior vitreous detachment, Retinal detach... OMIM:616468
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Retinitis Pigmentosa 45
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:613767
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re... OMIM:605549
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exudate OMIM:613310
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Retinitis Pigmentosa 43
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:613810
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:300029
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Retinal degeneration, Optic atrophy OMIM:614322
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Cofs Syndrome
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Narp Syndrome
Rod-cone dystrophy, Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arter... ORPHA:644
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Jalili Syndrome
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... OMIM:217080
Sjögren-Larsson Syndrome
Generalized hyperpigmentation, Macular degeneration, Retinopathy, Abnormality of retinal pigmenta... ORPHA:816
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1390
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Peroxisomal Acyl-Coa Oxidase Deficiency
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy OMIM:264470
Retinitis Pigmentosa 51
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613464
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Increased extraneu... OMIM:204200
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opt... OMIM:600132
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia ORPHA:99000
Irvan Syndrome
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... ORPHA:209943
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal macular morphology, Aganglionic megacolon, White eyelashes, W... ORPHA:897
Cone-Rod Dystrophy 10
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610283
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... OMIM:193220
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology ORPHA:791
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Retinitis Pigmentosa 72
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:616469
Retinitis Pigmentosa 60
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613983
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:613862
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Macular edema, Vitreoretinopathy OMIM:268100
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Macular degeneration, Increased neuronal autofluorescent lip... OMIM:256730
Retinitis Pigmentosa 75
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617023
Retinitis Pigmentosa 66
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615233
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Juvenile Paget Disease
Melanocytic nevus, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2801
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ... OMIM:608161
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617547
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret... OMIM:120970
Coats Disease
Retinal detachment, Abnormal macular morphology, Abnormal retinal vascular morphology ORPHA:190
Retinitis Punctata Albescens
Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... ORPHA:52427
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Pigmentary retinopathy OMIM:605231
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Stickler Syndrome Type 2
Retinal detachment, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... ORPHA:364055
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Oculocutaneous Albinism Type 1
Depigmented fundus, Generalized hypopigmentation of hair, Generalized hypopigmentation, White eye... ORPHA:352731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Chorioretinal atrophy, Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pig... ORPHA:5
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Brain atrophy, Pigmentary retinopathy OMIM:619059
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Congenital Muscular Dystrophy With Intellectual Disability
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy ORPHA:370968
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Rod-cone dystrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:268020
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Retinitis Pigmentosa 27
Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore... OMIM:613750
Macular Degeneration, Age-Related, 3
Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization, Drusen OMIM:608895
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Leigh Syndrome With Leukodystrophy
Pigmentary retinopathy, Optic atrophy ORPHA:255241
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Spondylometaphyseal Dysplasia, Axial
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:602271
Optic Atrophy 8
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Prolonged s... OMIM:616648
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy ORPHA:100996
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:609033
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Absent foveal reflex, Optic disc pallor, Abnormality... OMIM:300476
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor OMIM:616562
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Increased neuronal autofluor... OMIM:256731
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Neurocutaneous Melanocytosis
Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Chorioreti... ORPHA:2481
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:601777
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Absent foveal reflex OMIM:616517
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613660
Nephronophthisis 15
Retinal degeneration OMIM:614845
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:615986
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Zika Virus Disease
Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atrophy, Optic disc ... ORPHA:448237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebral cortical atrophy, Pigmentary retinopathy, Facial palsy OMIM:613156
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Nephronophthisis 14
Retinal degeneration OMIM:614844
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy OMIM:300578
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... OMIM:617406
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor ORPHA:216866
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... OMIM:601813
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Absent ... ORPHA:1215
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Arthrogryposis, Distal, Type 5
Retinal fold, Abnormality of retinal pigmentation OMIM:108145
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Cln3 Disease
Optic atrophy, Generalized cerebral atrophy/hypoplasia, Cerebellar atrophy, Bull's eye maculopath... ORPHA:228346
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor, Pigmentary retinop... ORPHA:79264
Vici Syndrome
Hypopigmentation of the skin, Cerebral cortical atrophy, Abnormal macular morphology, Optic atrop... ORPHA:1493
Leber Congenital Amaurosis 4
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Micro Syndrome
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of vis... ORPHA:2510
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches, Optic atrophy, Abnormal retinal ... ORPHA:2715
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic atrophy, Optic disc pallor OMIM:268315
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of the ... ORPHA:88628
Joubert Syndrome 3
Retinal dystrophy, Pigmentary retinopathy OMIM:608629
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia ORPHA:324416
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Absent foveal reflex OMIM:615147
Bardet-Biedl Syndrome 17
Rod-cone dystrophy, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy, Bone spicule ... OMIM:615994
Oguchi Disease
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon ORPHA:75382
Mucolipidosis Iv
Cerebellar atrophy, Retinal degeneration, Optic atrophy OMIM:252650
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy, Neuronal loss in central nervous system, Cerebral atrophy, I... OMIM:610127
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Macular degeneration, Cer... OMIM:604360
Leber Congenital Amaurosis 15
Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves... OMIM:613843
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Brain atrophy, Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenu... OMIM:619260
Hsd10 Mitochondrial Disease
Retinal degeneration, Cerebral cortical atrophy, Optic atrophy OMIM:300438
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Late-Onset Retinal Degeneration
Peripapillary atrophy, Iris transillumination defect, Macular degeneration, Choroidal neovascular... ORPHA:67042
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation ORPHA:585
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac... OMIM:270200
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Cerebral atrophy, Optic atrophy OMIM:616211
Wolfram Syndrome 1
Cerebral atrophy, Pigmentary retinopathy, Optic atrophy OMIM:222300
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Freckling, Melanocytic nevus, Abnormality of macular pigmentation ORPHA:1573
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Freckling, Decreased nerve conduction velocity, Cerebellar atrophy, Pigmentary ret... OMIM:610651
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Poretti-Boltshauser Syndrome
Retinal atrophy, Retinal dystrophy, Retinal thinning OMIM:615960
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor OMIM:616171
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:2235
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Melanocytic nevus, Generalized hypopigmentation, Abnormality of reti... ORPHA:1969
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Neuronal loss in central nervous system, Decreased nerve conduction velocity, Cere... OMIM:256600
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Abetalipoproteinemia
Retinal degeneration, Retinopathy OMIM:200100
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Pigmentary retinopathy, Optic atrophy OMIM:617282
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Pigmentary retinopathy, Optic atrophy OMIM:613154
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti... OMIM:300424
Scheie Syndrome
Retinal degeneration OMIM:607016
Thiamine-Responsive Megaloblastic Anemia Syndrome
Retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy OMIM:249270
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Hypoplastic optic chiasm, Optic nerve hypoplasia OMIM:615113
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Abnormality of visual evoked potent... OMIM:601152
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment ... ORPHA:436245
Cohen Syndrome
Chorioretinal dystrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Optic a... OMIM:216550
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... ORPHA:85167
Retinal Cone Dystrophy 3B
Macular atrophy, Cone/cone-rod dystrophy OMIM:610356
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis OMIM:605808
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Late Infantile Neuronal Ceroid Lipofuscinosis
Corpus callosum atrophy, Retinal degeneration, Cerebral atrophy, Cerebellar atrophy, Abnormality ... ORPHA:168491
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Mepan Syndrome
Cerebellar atrophy, Cerebral atrophy, Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Chorioreti... OMIM:618733
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Ectopia Lentis Et Pupillae
Retinal detachment, Iris transillumination defect OMIM:225200
Hsd10 Disease, Infantile Type
Rod-cone dystrophy, Frontotemporal cerebral atrophy, Optic atrophy, Retinal degeneration, Diffuse... ORPHA:391428
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Cafe-au-lait spot, Abnormality of pattern visual evoked potentials, Cerebral ... ORPHA:166035
Aceruloplasminemia
Retinal degeneration, Macular degeneration, Abnormality of retinal pigmentation ORPHA:48818
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Pigmentary retinopathy, Brushfield spots OMIM:214110
Usher Syndrome
Cerebral cortical atrophy, Abnormality of retinal pigmentation ORPHA:886
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Cerebral cortical atrophy, Choroidal neovascularization ORPHA:404451
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Mucopolysaccharidosis, Type Ii
Papilledema, Neurodegeneration, Abnormality of retinal pigmentation OMIM:309900
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Cone-Rod Dystrophy 12
Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:612657
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Optic disc pallor, Abnorm... ORPHA:485421
Non-Specific Early-Onset Epileptic Encephalopathy
Retinal degeneration, Cerebral atrophy, Brain atrophy, Optic atrophy ORPHA:442835
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Corpus callosum atrophy, Brain atrophy, Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Abno... OMIM:616875
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Abnormality of somatosensory evoked potentials, Optic atrophy, Absent brain... ORPHA:52368
Maternal Uniparental Disomy Of Chromosome 4
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy ORPHA:96180
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Retinal flecks, Pallidal degeneration, B... ORPHA:157850
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abnormality of soma... ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... OMIM:601455
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy OMIM:240300
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Optic atrophy, Diffuse cerebellar atrophy, Cerebral atrophy, Vitiligo, A... ORPHA:480898
Aceruloplasminemia
Retinal degeneration OMIM:604290
Senior-Loken Syndrome 9
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration OMIM:616629
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Vitritis OMIM:107320
Cohen Syndrome
Chorioretinal dystrophy, Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal ... ORPHA:193
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action potentials, Ab... OMIM:229300
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Werner Syndrome
White forelock, Premature graying of hair, Abnormality of retinal pigmentation ORPHA:902
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Coffin-Lowry Syndrome
Cerebral cortical atrophy, Optic atrophy, Abnormality of retinal pigmentation ORPHA:192
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Hyperpigmen... OMIM:231550
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... OMIM:616959
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Alstrom Syndrome
Pigmentary retinopathy, Cone/cone-rod dystrophy OMIM:203800
Retinoblastoma
Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Subretinal pigment epithelium hemorrh... ORPHA:790
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Chorioretinal atrophy OMIM:210370
Aicardi Syndrome
Abnormality of skin pigmentation, Optic atrophy, Abnormality of retinal pigmentation, Chorioretin... ORPHA:50
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Abnormality of pattern visual evoked potentials, Retinal degeneration,... ORPHA:2822
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinopathy, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal dyspl... ORPHA:2526
Autosomal Dominant Cerebellar Ataxia
Retinal degeneration, Macular degeneration, Pigmentary retinopathy ORPHA:99
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Brain atrophy, Abnormality of retinal pigmentation, Decreased distal sensory nerve action potenti... ORPHA:466768
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration ORPHA:284289
Norrie Disease
Retinal detachment, Retinal dysplasia, Retinal fold, Optic atrophy OMIM:310600
Cockayne Syndrome Type 1
Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory responses, H... ORPHA:90321
Bardet-Biedl Syndrome 1
Rod-cone dystrophy, Hyperautofluorescent macular lesion, Retinal degeneration, Retinal dystrophy,... OMIM:209900
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy ORPHA:168549
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration OMIM:619780
Paget Disease Of Bone 5, Juvenile-Onset
Retinal degeneration, Macular scar, Retinopathy, Angioid streaks of the fundus OMIM:239000
Neurodegeneration With Brain Iron Accumulation 1
Global brain atrophy, Optic atrophy, Retinal degeneration, Cerebral degeneration, Hyperpigmentati... OMIM:234200
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy ORPHA:309263
Chédiak-Higashi Syndrome
Hypopigmentation of the skin, Brain atrophy, Iris hypopigmentation, Large clumps of pigment irreg... ORPHA:167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Cockayne Syndrome A
Abnormality of skin pigmentation, Optic atrophy, Retinal atrophy, Abnormal auditory evoked potent... OMIM:216400
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Pigmentary retinopathy OMIM:277400
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Retinopathy OMIM:252600
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration, Neurodegeneration ORPHA:79244
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Retinal degeneration, Cerebral atrophy, Atrophy of the spinal cord, Macular colobo... ORPHA:79282
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Optic disc pallor, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:214100
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Cerebellar atrophy, Parietal cortical atrophy, Corpus callosum atrophy ORPHA:412057
Multiple Sulfatase Deficiency
Cerebellar atrophy, Retinal degeneration, Cerebral atrophy OMIM:272200
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Nijmegen Breakage Syndrome
Progressive vitiligo, Cafe-au-lait spot, Retinal pigment epithelial mottling, Conjunctival telang... OMIM:251260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Brain atrophy, Optic atrophy, Abnormality of retinal pigmentation ORPHA:505248
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Brushfield spots, Rod-cone dystrophy, Cerebellar vermis atrophy, Optic atr... OMIM:614866
Mitochondrial Dna-Associated Leigh Syndrome
Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy ORPHA:255210
Mucopolysaccharidosis Type 2
Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Abnormality of reti... ORPHA:580
Abetalipoproteinemia
Hypopigmentation of the fundus, Rod-cone dystrophy, Abnormality of retinal pigmentation ORPHA:14
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Pseudoxanthoma Elasticum
Retinal hemorrhage, Retinal peau d'orange, Optic disc drusen, Angioid streaks of the fundus, Macu... OMIM:264800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Atrophy/Degeneration involving the spinal cord, Retinal pigment epithelial mottling OMIM:607459
Cancer-Associated Retinopathy
Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on macular OCT, Optic atrophy, V... ORPHA:71505
Melas
Cerebral cortical atrophy, Brain atrophy, Optic atrophy, Vitiligo, Pigmentary retinopathy ORPHA:550
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Vitritis, Retinal dystrophy, Abnormality of retinal pigmentatio... ORPHA:2556
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy, Corpus callosum atrophy OMIM:248500
Cockayne Syndrome B
Abnormality of skin pigmentation, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Nephronophthisis 11
Retinal degeneration OMIM:613550
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Cockayne Syndrome
Retinal hemorrhage, Retinal arteriolar constriction, Optic atrophy, Retinal atrophy, Retinal dege... ORPHA:191
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Abnormality of retinal pigmentation ORPHA:175
Neurofibromatosis Type 1
Melanocytic nevus, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Hypopigmen... ORPHA:636
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Mucopolysaccharidosis Type 2, Severe Form
Retinopathy, Abnormal foveal morphology, Optic atrophy, Abnormality of retinal pigmentation, Papi... ORPHA:217085
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Cerebral atrophy, Cerebellar atrophy, Optic disc pallor, ... ORPHA:404454
Papillorenal Syndrome
Morning glory anomaly, Macular degeneration, Chorioretinal atrophy, Macular hyperpigmentation, Re... OMIM:120330
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Abnorm... ORPHA:309271
Mucopolysaccharidosis Type 2, Attenuated Form
Retinopathy, Abnormal foveal morphology, Optic atrophy, Abnormality of retinal pigmentation, Papi... ORPHA:217093
Mucopolysaccharidosis Type 3
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Central nervous system degeneration, Pig... ORPHA:581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Retinal dysplasia... OMIM:253280
Werner Syndrome
Retinal degeneration OMIM:277700
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Hypopigm... ORPHA:79430
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Macular edema, Choroidal neovascularization, Abnormality of retinal pigmenta... ORPHA:91500
Pseudoxanthoma Elasticum, Forme Fruste
Retinal hemorrhage, Macular degeneration, Angioid streaks of the fundus OMIM:177850
Hurler Syndrome
Retinal degeneration, Neurodegeneration OMIM:607014
Senior-Loken Syndrome 8
Retinal dystrophy, Rod-cone dystrophy, Macular atrophy OMIM:616307
Kniest Dysplasia