Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
Lichen Amyloidosis |
|
Pruritus |
ORPHA:49804 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:215500 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... |
ORPHA:97341 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Choroideremia |
|
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... |
OMIM:303100 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... |
ORPHA:75377 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Nanophthalmos |
|
Abnormal choroid morphology, Abnormality of retinal pigmentation |
ORPHA:35612 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... |
ORPHA:827 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:607921 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613582 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, Retinopathy, Optic atrophy, Cerebell... |
OMIM:610951 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:610359 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy |
OMIM:551500 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... |
ORPHA:85128 |
Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... |
OMIM:613428 |
Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... |
OMIM:617871 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:614181 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor, Cerebellar vermis atrophy, Corpus callosu... |
OMIM:619389 |
Retinitis Pigmentosa 95 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... |
OMIM:620102 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... |
OMIM:600138 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Retinitis Pigmentosa 4 |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613731 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... |
OMIM:617123 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy |
OMIM:615725 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Chorioretinal dysplasia, Cerebral atrophy, Retinal detachment, Optic disc pallor, Abnormality of ... |
OMIM:251270 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... |
OMIM:619007 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina |
OMIM:172870 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Cone-Rod Dystrophy 16 |
|
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... |
OMIM:614500 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... |
OMIM:613750 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema |
OMIM:180104 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy |
OMIM:619090 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:606068 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... |
OMIM:618697 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Achromatopsia |
|
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... |
ORPHA:49382 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... |
ORPHA:41751 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:618220 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... |
OMIM:618826 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus |
OMIM:146750 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:601718 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Usher Syndrome, Type Iv |
|
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... |
OMIM:618144 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
Retinitis Pigmentosa 73 |
|
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... |
OMIM:616544 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... |
OMIM:611040 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Optic disc ... |
OMIM:618195 |
Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... |
OMIM:617460 |
Canavan Disease |
|
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:141 |
Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... |
OMIM:204100 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:616108 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Pruritus |
OMIM:613955 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Abnormality of retinal pigmentation |
ORPHA:2743 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Leber Congenital Amaurosis 8 |
|
Pigmentary retinopathy, Macular coloboma, Choriocapillaris atrophy, Nummular pigmentation of the ... |
OMIM:613835 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:180100 |
Leber Congenital Amaurosis 9 |
|
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... |
OMIM:608553 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Morning Glory Disc Anomaly |
|
Optic disc coloboma, Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:35737 |
Eem Syndrome |
|
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation |
ORPHA:1897 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:618613 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Chorioretinal... |
OMIM:312600 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
Spinocerebellar Ataxia 7 |
|
Pigmentary retinopathy, Macular degeneration, Optic atrophy |
OMIM:164500 |
Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:600105 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation |
ORPHA:3156 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation |
ORPHA:2196 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... |
OMIM:612095 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood ... |
OMIM:604116 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Cerebral atrophy, Abnormality of retinal pigmentation |
ORPHA:397951 |
Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612572 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels |
OMIM:204000 |
Cofs Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... |
OMIM:617304 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Optic Atrophy 5 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Optic disc pallor |
OMIM:610708 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... |
ORPHA:79435 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin... |
OMIM:145350 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Narp Syndrome |
|
Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar to... |
ORPHA:644 |
Retinitis Pigmentosa 83 |
|
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... |
OMIM:618173 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:180105 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Heterochromia iridis, Abnormality of retinal pigmentation |
ORPHA:1390 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613581 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Macular degeneration, Abnormality of retinal pigmentation, Retinal arter... |
OMIM:605549 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613617 |
Jalili Syndrome |
|
Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,... |
OMIM:217080 |
Joubert Syndrome 28 |
|
Pigmentary retinopathy, Optic disc pallor |
OMIM:617121 |
Retinitis Pigmentosa 3 |
|
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:300029 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Retinitis Pigmentosa 43 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:613810 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:613756 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Waardenburg-Shah Syndrome |
|
Abnormal macular morphology, Premature graying of hair, Aganglionic megacolon, Abnormality of ret... |
ORPHA:897 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:602772 |
Heimler Syndrome 1 |
|
Retinal pigment epithelial mottling, Macular dystrophy |
OMIM:234580 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Hypoplasia of the fovea, Depigmented fundus, Iris hypopigmentation, Generalized hypo... |
ORPHA:352731 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:791 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... |
ORPHA:79434 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation... |
OMIM:600132 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Juvenile Paget Disease |
|
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation |
ORPHA:2801 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... |
OMIM:193220 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... |
ORPHA:364055 |
Macular Dystrophy, Patterned, 2 |
|
Pattern dystrophy of the retina, Foveal hyperpigmentation, Drusen |
OMIM:608970 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Optic nerve misrouting, I... |
ORPHA:79432 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:613983 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Pigmentary retinopathy, Cerebral cortical atrophy |
ORPHA:370968 |
Retinitis Punctata Albescens |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy... |
ORPHA:52427 |
Retinitis Pigmentosa 72 |
|
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:616469 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Abnormal auditory evoked potentia... |
OMIM:616648 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Macular hyperpigmentation, Bone spicule pigmentation of the retina, Reti... |
OMIM:120970 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation |
ORPHA:3085 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617547 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615233 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormal chorioretinal morphology, Retinopathy, Chorioretinal atrophy, Abnormality of retinal pig... |
ORPHA:5 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema |
OMIM:268100 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Brain atrophy |
OMIM:619059 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Leigh Syndrome With Leukodystrophy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:255241 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Yellow/white lesions of the retina, Retinal flecks |
ORPHA:100996 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy, Cerebral atrophy |
OMIM:268020 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Bone spicule pigmentation of... |
OMIM:609033 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Pi... |
ORPHA:284454 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Abnormal retinal nerve fiber lay... |
ORPHA:1215 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Neurocutaneous Melanocytosis |
|
Numerous congenital melanocytic nevi, Abnormality of retinal pigmentation, Chorioretinal coloboma... |
ORPHA:2481 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... |
OMIM:615986 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:578 |
Zika Virus Disease |
|
Abnormal optic disc morphology, Macular atrophy, Optic disc hypoplasia, Retinal pigment epithelia... |
ORPHA:448237 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Pigmentary retinopathy, Cerebral cortical atrophy |
OMIM:613156 |
Arthrogryposis, Distal, Type 5 |
|
Retinal fold, Abnormality of retinal pigmentation |
OMIM:108145 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling |
OMIM:219900 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Cerebellar atr... |
ORPHA:79264 |
Cln3 Disease |
|
Pigmentary retinopathy, Generalized cerebral atrophy/hypoplasia, Optic atrophy, Cerebellar atroph... |
ORPHA:228346 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Optic atrophy, Cere... |
ORPHA:2510 |
Cone-Rod Dystrophy 6 |
|
Macular atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:601777 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy |
ORPHA:216866 |
Retinitis Pigmentosa 74 |
|
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy |
OMIM:616562 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
Vici Syndrome |
|
Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation of the skin, O... |
ORPHA:1493 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Night Blindness, Congenital Stationary, Type 1B |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:257270 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin... |
ORPHA:79431 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation, Hypopig... |
ORPHA:2715 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Undetectable visual evoked potentials, Rod-cone dystrophy, Patchy atrophy of the retinal pigment ... |
ORPHA:436245 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Bone spicule pigmentation of the ... |
OMIM:615994 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal sensory nerve conduction velocity, Pigmentary retinopathy, Bone spicule pigmentation of ... |
ORPHA:88628 |
Bullous Lichen Planus |
|
Pruritus |
ORPHA:33408 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, N... |
OMIM:256600 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:268315 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Joubert Syndrome 8 |
|
Pigmentary retinopathy, Optic disc pallor |
OMIM:612291 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... |
OMIM:245200 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Refsum Disease |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:773 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:2971 |
Leber Congenital Amaurosis 15 |
|
Peripapillary atrophy, Dull foveal reflex, Pigmentary retinopathy, Optic disc pallor, Retinal deg... |
OMIM:613843 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation |
ORPHA:585 |
Wolfram Syndrome 1 |
|
Pigmentary retinopathy, Cerebral atrophy, Optic atrophy |
OMIM:222300 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Abnormality of visua... |
OMIM:601152 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling |
OMIM:614105 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Abnormality of pattern visual evoked potentials, Optic disc pallor, Cerebral ... |
ORPHA:1947 |
Mepan Syndrome |
|
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Abnormality of visual evoked potentials |
ORPHA:508093 |
Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Pigmentary retinopathy, Decreased nerve conduction velocity, Optic atrophy, Cerebellar... |
OMIM:610651 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy |
ORPHA:79095 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Pigmentary retinopathy, Optic disc pallor, Optic atrophy |
OMIM:617282 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebral atrophy, Corpus callosum atrophy, Abnormality of visual evoked potentials, Optic atrophy... |
OMIM:616875 |
Peho Syndrome |
|
Neuronal loss in central nervous system, Optic atrophy, Cerebellar atrophy, Undetectable visual e... |
OMIM:260565 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... |
ORPHA:1969 |
Cohen Syndrome |
|
Chorioretinal dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye macul... |
OMIM:216550 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Abnormality of retin... |
ORPHA:85167 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
Coloboma Of Optic Nerve |
|
Optic disc coloboma, Retinal detachment |
OMIM:120430 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Abnormal amplitude of flash visual evoked potentials, Retinal degeneration, Cor... |
ORPHA:168491 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Optic disc pallor, Abnormality of visual evoked potentials, ... |
ORPHA:485421 |
Mohr-Tranebjaerg Syndrome |
|
Global brain atrophy, Absent brainstem auditory responses, Abnormality of somatosensory evoked po... |
ORPHA:52368 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Cerebral cortical atrophy, Abnormality of visual evoked potentials |
ORPHA:702 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Vitiligo, Cerebral atrophy, Corpus callosum atrophy, Abnormality of visual evoked potentials, Opt... |
ORPHA:480898 |
Prolidase Deficiency |
|
White forelock, Abnormality of retinal pigmentation |
ORPHA:742 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Developmental And Epileptic Encephalopathy 3 |
|
Brain atrophy, Cerebral atrophy, Abnormality of visual evoked potentials |
OMIM:609304 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Optic disc pallor, Undetectable visual evoked potentials, ... |
ORPHA:423479 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials |
OMIM:125310 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
Neuromuscular Oculoauditory Syndrome |
|
Chorioretinal lacunae, Retinal pigment epithelial mottling, Decreased amplitude of sensory action... |
OMIM:618733 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia |
OMIM:214110 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Neurodegeneration, Abnormality of retinal pigmentation |
OMIM:309900 |
Usher Syndrome |
|
Cerebral cortical atrophy, Abnormality of retinal pigmentation |
ORPHA:886 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Abnormality of visual evoked potentials |
ORPHA:314389 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:436271 |
Friedreich Ataxia |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... |
OMIM:229300 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Bull's eye maculopathy, Retinal degeneration, Pallidal degeneration, Opti... |
ORPHA:157850 |
Infantile Neuroaxonal Dystrophy |
|
Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve conduction, Abnorma... |
ORPHA:35069 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Pigmentary retinopathy, Optic disc pallor |
ORPHA:502423 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormal autonomic nervous system physiology, Hyperpigmentation of the skin, Orthostatic hypotens... |
OMIM:231550 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:612582 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:96180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:220110 |
Coffin-Lowry Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Abnormality of retinal pigmentation |
ORPHA:192 |
Werner Syndrome |
|
White forelock, Premature graying of hair, Abnormality of retinal pigmentation |
ORPHA:902 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Vitiligo, Pigmentary retinopathy, Perifoveal ring of hyperautofluorescence |
OMIM:240300 |
Cohen Syndrome |
|
Chorioretinal dystrophy, Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal ... |
ORPHA:193 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormality ... |
ORPHA:320401 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cafe-au-lait spot, Retinal degeneration, Abnormality of pattern visual evoked potentials, Cerebra... |
ORPHA:166035 |
Classic Homocystinuria |
|
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:394 |
Alstrom Syndrome |
|
Pigmentary retinopathy, Cone/cone-rod dystrophy |
OMIM:203800 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal coloboma, Optic disc colob... |
ORPHA:50 |
Autosomal Dominant Cerebellar Ataxia |
|
Pigmentary retinopathy, Macular degeneration, Retinal degeneration |
ORPHA:99 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chorioretinal dysplasia, Retinal detachment, Retinopathy, Abnormality of retinal pigmentation, Re... |
ORPHA:2526 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:309263 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
Mpdu1-Cdg |
|
Optic atrophy, Undetectable visual evoked potentials |
ORPHA:79323 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal motor nerve conduction velocity, Atrophy of the spinal cord, Abnormality of retinal pigm... |
ORPHA:466768 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:614230 |
Retinoblastoma |
|
Subretinal pigment epithelium hemorrhage, Retinal calcification, Abnormality of retinal pigmentat... |
ORPHA:790 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Hypermelanotic macule, Pigmentary retinopathy, Abnormality o... |
ORPHA:90321 |
Bardet-Biedl Syndrome 1 |
|
Hyperautofluorescent macular lesion, Aganglionic megacolon, Retinal degeneration, Bone spicule pi... |
OMIM:209900 |
Infantile Krabbe Disease |
|
Hypopigmented skin patches, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Cherry... |
ORPHA:206436 |
Cockayne Syndrome A |
|
Cerebral atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, D... |
OMIM:216400 |
Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ... |
ORPHA:167 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Cerebral atrophy, Pigmentary retinopathy, Atrophy of the spinal cord, Retinal degeneration, Abnor... |
ORPHA:79282 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Pigmentary retinopathy, Retinal degeneration, Hyperpigmentation of the skin... |
OMIM:234200 |
Ramon Syndrome |
|
Pigmentary retinopathy, Optic disc pallor |
OMIM:266270 |
Cln5 Disease |
|
Cerebellar atrophy, Corpus callosum atrophy, Abnormality of visual evoked potentials, Atrophy/Deg... |
ORPHA:228360 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Optic disc pallor, Cerebral cortical atrophy |
OMIM:214100 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Atrophy of the spinal cord, Retinal degeneration, Abnormality of pattern visual evoked potentials... |
ORPHA:2822 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Cerebral cortical atrophy |
OMIM:277400 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia, Cerebellar vermis atrophy, Optic... |
OMIM:614866 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:1933 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Optic atrophy, Brain atrophy, Abnormality of retinal pigmentation |
ORPHA:505248 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Brain atrophy, Abnormality of visual evoked potentials |
OMIM:614457 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Decreased nerve conduction velocity, Abnormality of retinal pigmentation, Retinal de... |
ORPHA:580 |
Trisomy 18 |
|
Abnormality of retinal pigmentation |
ORPHA:3380 |
Abetalipoproteinemia |
|
Hypopigmentation of the fundus, Rod-cone dystrophy, Abnormality of retinal pigmentation |
ORPHA:14 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... |
OMIM:601455 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Hypopigmented skin patches, Abnormality of retinal pigmentation, Vitriti... |
ORPHA:2556 |
Melas |
|
Vitiligo, Pigmentary retinopathy, Optic atrophy, Brain atrophy, Cerebral cortical atrophy |
ORPHA:550 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysf... |
ORPHA:309271 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Atrophy/Degeneration involving the spinal cord, Retinal pigment epithelial mottling |
OMIM:607459 |
Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, ... |
ORPHA:79430 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:255210 |
Cockayne Syndrome B |
|
Cerebral atrophy, Pigmentary retinopathy, Decreased nerve conduction velocity, Abnormal auditory ... |
OMIM:133540 |
Cockayne Syndrome |
|
Retinal hemorrhage, Cerebral atrophy, Retinal atrophy, Pigmentary retinopathy, Optic disc pallor,... |
ORPHA:191 |
Nijmegen Breakage Syndrome |
|
Progressive vitiligo, Retinal pigment epithelial mottling, Cafe-au-lait spot, Neurodegeneration |
OMIM:251260 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy |
ORPHA:411629 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Abnormality of retinal pigmentation |
ORPHA:175 |
Mogs-Cdg |
|
Optic atrophy, Abnormality of visual evoked potentials, Fair hair, Absent brainstem auditory resp... |
ORPHA:79330 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
Cancer-Associated Retinopathy |
|
Granular macular appearance, Retinal atrophy, Optic disc pallor, Vitritis, Retinal pigment epithe... |
ORPHA:71505 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Hypopigmented skin patches |
ORPHA:3121 |
Neurofibromatosis Type 1 |
|
Freckling, Hypopigmented skin patches, Abnormality of retinal pigmentation, Multiple cafe-au-lait... |
ORPHA:636 |
White-Sutton Syndrome |
|
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia, Cerebral atr... |
OMIM:616364 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy |
OMIM:618460 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebral atrophy, Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Optic atrop... |
ORPHA:404454 |
Mucopolysaccharidosis Type 3 |
|
Pigmentary retinopathy, Central nervous system degeneration, Retinal degeneration, Optic atrophy,... |
ORPHA:581 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinopathy, Optic ... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinopathy, Optic ... |
ORPHA:217093 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Pigmentary retinopathy |
OMIM:309801 |
Late-Infantile/Juvenile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Abnormality ... |
ORPHA:206443 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Papilledema, Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, Abnormality... |
ORPHA:91500 |
Cystinosis, Nephropathic |
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Cerebral atrophy, Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation o... |
OMIM:219800 |
Cerebrotendinous Xanthomatosis |
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Global brain atrophy, Abnormal retinal vascular morphology, Optic neuropathy, Optic disc pallor, ... |
ORPHA:909 |
Proteus Syndrome |
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Irregular hyperpigmentation, Central heterochromia, Abnormality of retinal pigmentation, Multiple... |
ORPHA:744 |
Atypical Werner Syndrome |
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Premature graying of hair, Patchy hypo- and hyperpigmentation, Abnormality of retinal pigmentatio... |
ORPHA:79474 |
Alagille Syndrome 1 |
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Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:118450 |
Pearson Syndrome |
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Hyperpigmentation of the skin, Pigmentary retinopathy, Cafe-au-lait spot |
ORPHA:699 |
Hardikar Syndrome |
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Pigmentary retinopathy |
OMIM:301068 |
Lipodystrophy, Familial Partial, Type 7 |
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Pigmentary retinopathy, Orthostatic hypotension |
OMIM:606721 |
Autosomal Recessive Malignant Osteopetrosis |
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Optic nerve compression, Abnormality of visual evoked potentials |
ORPHA:667 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Facial palsy, Pontocerebellar atrophy, Abnormality of visual evoked potentials |
ORPHA:258 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Cerebral atrophy, Cerebral cortical neurodegeneration, Abnormality of visual evoked potentials, N... |
OMIM:203700 |
Wiedemann-Rautenstrauch Syndrome |
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Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia |
ORPHA:3455 |
Metachromatic Leukodystrophy |
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Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:512 |