Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Cone-Rod Dystrophy 19 |
|
Retinal dystrophy, Cone/cone-rod dystrophy |
OMIM:615860 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... |
OMIM:165550 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy |
OMIM:165510 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
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 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Microphthalm... |
OMIM:120200 |
Gluteal Muscles, Absence Of |
|
Optic nerve hypoplasia |
OMIM:231970 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilateral microphthalm... |
ORPHA:137902 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... |
OMIM:615113 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Aniridia |
ORPHA:1068 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy |
OMIM:613672 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy |
OMIM:616389 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microcephaly, Cerebellar hypoplasia, Microphthalmia, Retinal dysplasia, Hypoplasia of the brainstem |
OMIM:615771 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614181 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Microphthalmia, Agenesis of corpu... |
OMIM:218670 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia, Cerebellar hypoplasia |
ORPHA:65288 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Microphthalmia, Peripheral retinal avascularization, Falciform retin... |
OMIM:305390 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Hypoplasia of the brainstem |
ORPHA:250972 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor |
OMIM:165300 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Hypoplasia of the pons, Cerebellar hypoplasia, Microp... |
OMIM:615181 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:610381 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Microphthalmia |
OMIM:617914 |
Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... |
ORPHA:891 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Retinal detachment, Retinal dystrophy, Iris coloboma, Microphthalmia, Chorioreti... |
OMIM:212550 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Optic neuritis, Peripheral demyelination |
OMIM:165200 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Optic disc hypoplasia |
OMIM:182230 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Coloboma, Macular atrophy |
OMIM:602499 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment |
OMIM:613310 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum |
OMIM:618890 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
Craniotelencephalic Dysplasia |
|
Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Optic atrophy, Septo-optic dysplasia, Micro... |
ORPHA:1528 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy |
OMIM:616188 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
X-Linked Intellectual Disability, Najm Type |
|
Cerebral cortical atrophy, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Optic atr... |
ORPHA:163937 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Cataract 21, Multiple Types |
|
Iris coloboma, Retinal detachment, Macular hypoplasia |
OMIM:610202 |
Neurodegeneration With Brain Iron Accumulation |
|
Optic atrophy, Retinopathy |
ORPHA:385 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Agenesis of ... |
ORPHA:228384 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-... |
OMIM:618736 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Microcephaly |
OMIM:613638 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia |
OMIM:246000 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Optic Atrophy 9 |
|
Optic atrophy |
OMIM:616289 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Retinal dysplasia, Microphthalmia |
ORPHA:324416 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Optic nerve hypoplasia, Microcephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum |
OMIM:617864 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the optic tract, Increased cup-to-disc ratio, Hypoplasia... |
ORPHA:500144 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Optic nerve hypoplasia |
OMIM:614306 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retinal dystrophy, Progressive micro... |
OMIM:300953 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy |
OMIM:617460 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Anophthalmia, Coloboma, Microphthalmia, Optic nerve aplasia |
OMIM:206900 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
Jalili Syndrome |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:217080 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Retinal Venous Beading |
|
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... |
OMIM:180080 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Coats Disease |
|
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology |
ORPHA:190 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Stickler Syndrome Type 2 |
|
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... |
OMIM:300476 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia, Hypoplasia of the corpus callosum |
OMIM:615033 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Microphthalmia |
OMIM:614833 |
Leukoencephalopathy With Ataxia |
|
Optic neuropathy, Abnormal chorioretinal morphology |
OMIM:615651 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Coloboma, Microphthalmia |
OMIM:274270 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Re... |
OMIM:251270 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the optic nerve |
ORPHA:137634 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Microcephaly, Retinal detachment, Hypoplasia of the pons, Cerebellar hypo... |
ORPHA:370959 |
Microspherophakia-Metaphyseal Dysplasia |
|
Microspherophakia, Retinal detachment, Lens coloboma |
OMIM:157151 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Microspherophakia With Hernia |
|
Retinal detachment |
OMIM:157150 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
Cavitary Optic Disc Anomalies |
|
Peripapillary atrophy |
OMIM:611543 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Retinal dystrophy, Coloboma, Microphthalmia |
OMIM:610125 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
Cerebral Visual Impairment |
|
Increased cup-to-disc ratio, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Optic disc pall... |
ORPHA:447788 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:616562 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Optic disc hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:401777 |
Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior ... |
ORPHA:83461 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microphthalmia |
OMIM:251505 |
Bresek Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Aganglionic megacolon, Microphthalmia |
ORPHA:85284 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate |
OMIM:264420 |
Joubert Syndrome 22 |
|
Coloboma, Retinal dysplasia, Microphthalmia |
OMIM:615665 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Microphthalmia, Syndromic 6 |
|
Cerebral cortical atrophy, Microcephaly, Cerebellar hypoplasia, Retinal dystrophy, Inferior cereb... |
OMIM:607932 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy |
ORPHA:496790 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Phace Association |
|
Optic nerve hypoplasia, Cerebellar hypoplasia, Optic atrophy, Horner syndrome, Patent ductus arte... |
OMIM:606519 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Optic atrophy, Retinal arteriolar constriction |
OMIM:249660 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... |
OMIM:602772 |
Canavan Disease |
|
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:141 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
ORPHA:1473 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Optic nerve hypoplasia, Bilateral microphthalmos |
OMIM:607597 |
Retinitis Pigmentosa 77 |
|
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy |
OMIM:617304 |
Joubert Syndrome 16 |
|
Retinal dystrophy, Coloboma |
OMIM:614465 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Cerebellar h... |
OMIM:614643 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Optic nerve hypoplasia, Primary microcephaly |
OMIM:618828 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:601813 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment |
OMIM:225200 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Microcephaly, Cerebral cortical atrophy, Patent ductus arteriosus |
OMIM:220120 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormality of visual evoked potentials, Microcephaly, Hypoplasia of the pons |
OMIM:617523 |
Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Hypoplasia of the corpus callosum |
OMIM:618156 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Macular coloboma, Facial palsy |
OMIM:107550 |
Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia, Cerebellar hypoplasia |
OMIM:615280 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Retinal coloboma, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebellar hypopl... |
OMIM:300749 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... |
OMIM:616469 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Temporal optic disc... |
ORPHA:1215 |
Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy |
ORPHA:1021 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Microphthalmia |
OMIM:609053 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia |
OMIM:615879 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Iris coloboma, ... |
ORPHA:231736 |
Septo-Optic Dysplasia Spectrum |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Septo-optic dysplasia, Aplasia/Hypoplasia of... |
ORPHA:3157 |
White-Sutton Syndrome |
|
Cerebral atrophy, Rod-cone dystrophy, Optic nerve hypoplasia, Abnormality of visual evoked potent... |
OMIM:616364 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Cerebral atrophy, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplasia of the... |
OMIM:612513 |
Retinitis Pigmentosa 66 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:615233 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia |
ORPHA:363686 |
Leber Optic Atrophy |
|
Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy |
OMIM:535000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Microcephaly, Retinal detachment, Cerebellar hypoplasia, Hypoplasia of th... |
OMIM:236670 |
Aniridia 1 |
|
Optic nerve hypoplasia, Chorioretinal hypopigmentation, Hypoplasia of the fovea, Hypoplasia of th... |
OMIM:106210 |
Pancreatic And Cerebellar Agenesis |
|
Optic nerve hypoplasia, Cerebellar agenesis, Microcephaly, Cerebellar hypoplasia |
OMIM:609069 |
Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia |
OMIM:613094 |
Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration, Peripheral demyelination |
OMIM:200100 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... |
OMIM:301056 |
Renal Coloboma Syndrome |
|
Retinal coloboma, Optic disc coloboma, Optic nerve dysplasia |
ORPHA:1475 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Hypoplasia of the olfactory bulb, Abnormal autonomic nervous system physiology, Optic nerve hypop... |
ORPHA:300570 |
19P13.13 Microdeletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Corpus callosum atrophy, Hypoplasia of the frontal lobes |
ORPHA:357001 |
Birdshot Chorioretinopathy |
|
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy |
OMIM:605808 |
Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retinal vascular tortuosity, Cerebel... |
OMIM:243605 |
Juvenile Glaucoma |
|
Optic neuropathy, Increased cup-to-disc ratio, Temporal optic disc pallor, Retinal arterial occlu... |
ORPHA:98977 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Iris coloboma, Retinal atrophy |
OMIM:616722 |
Autosomal Dominant Keratitis |
|
Hypoplastic iris stroma, Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Macular hyp... |
ORPHA:2334 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:101085 |
2P15P16.1 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Optic atrophy, Facial palsy |
ORPHA:261349 |
Srd5A3-Cdg |
|
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Coloboma |
ORPHA:324737 |
Retinitis Punctata Albescens |
|
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... |
ORPHA:52427 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, M... |
OMIM:256600 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... |
ORPHA:352731 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:921 |
Coach Syndrome 2 |
|
Coloboma, Chorioretinal coloboma |
OMIM:619111 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebral hypoplasia, Cerebral atrophy, Hypoplasia of the frontal lobes, Optic nerve hypoplasia, M... |
ORPHA:468631 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Coloboma, Retinal detachment, Microphthalmia |
OMIM:613153 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic nerve hypoplasia, Patent ductus arteriosus, Optic disc hypoplasia |
ORPHA:79345 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked potentials, Rod-cone... |
ORPHA:436245 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:261250 |
Aniridia 2 |
|
Optic atrophy |
OMIM:617141 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
Krabbe Disease |
|
Optic atrophy, Diffuse cerebral atrophy, Abnormal flash visual evoked potentials, Decreased nerve... |
OMIM:245200 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Optic atrophy... |
OMIM:601152 |
Fg Syndrome Type 1 |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:93932 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Coloboma, Microphthalmia |
OMIM:120433 |
Hydranencephaly |
|
Chorioretinal atrophy, Cerebral cortical atrophy, Primary microcephaly, Optic nerve hypoplasia |
ORPHA:2177 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Undetectable visual evoked potentials, Cerebellar vermis hypoplasi... |
ORPHA:163961 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:2971 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma, Microphthalmia |
OMIM:610023 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Optic disc pallor, Cerebral atrophy, Abnormality of pattern visual evoked potentials |
ORPHA:1947 |
Holoprosencephaly 13, X-Linked |
|
Optic nerve hypoplasia, Microcephaly, Patent ductus arteriosus, Septo-optic dysplasia, Agenesis o... |
OMIM:301043 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebral atrophy, Abnormality of visual evoked potentials, Corpus callosum atrophy, Hypoplasia of... |
OMIM:616875 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic atrophy, Optic neuropathy |
OMIM:618249 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Retinal coloboma, Abnormality of ... |
ORPHA:2510 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Microcephaly, Abnormality of visual evoked potentials, Cerebral cortical atrophy |
ORPHA:702 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Coloboma, Retinal degeneration, Microphthalmia |
OMIM:615249 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Optic atrophy, Caud... |
ORPHA:52368 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Retinal coloboma, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Abnorm... |
ORPHA:508498 |
Peho Syndrome |
|
Optic atrophy, Undetectable visual evoked potentials, Progressive microcephaly, Hypoplasia of the... |
OMIM:260565 |
Phace Syndrome |
|
Dandy-Walker malformation, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Microphth... |
ORPHA:42775 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Marcus-Gunn Syndrome |
|
Morning glory anomaly, Abnormal fifth cranial nerve morphology, Coloboma |
ORPHA:91412 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Abnormality of visual evoked potentials, Microcephaly, Hypoplasia of the corpu... |
ORPHA:314389 |
Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia, Anophthalmia, Hypoplasia of the corpus callosum, Cerebellar vermis hypopl... |
OMIM:605627 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... |
OMIM:616959 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Retinopathy, Optic neuropathy, Axonal degeneration |
OMIM:616811 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Optic nerve hypoplasia |
ORPHA:221139 |
Abruzzo-Erickson Syndrome |
|
Coloboma |
OMIM:302905 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, Cerebral atrophy, Retinal degeneration, Abn... |
ORPHA:168491 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Opti... |
ORPHA:485421 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Retinal dysplasia, Optic nerve dysplasia |
OMIM:615287 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Cerebral atrophy, Abnormality of visual evoked potentials, Corpus callosum atrophy, Optic atrophy... |
ORPHA:480898 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Agenesis of corpus callosum, Septo-optic dysplasia, Microphthalmia |
ORPHA:3301 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Retinal dystrophy, Hypoplasia of the corpus callosum, Undetectable visual evoked potentials, Opti... |
ORPHA:423479 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Agenesis of corpus callosum, Hypoplasia ... |
ORPHA:457284 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Optic nerve hypoplasia, Microcephaly, Retinal dystrophy |
OMIM:619321 |
Microphthalmia, Syndromic 13 |
|
Coloboma, Microphthalmia |
OMIM:300915 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Optic atrophy, Coloboma, Microphthalmia |
OMIM:612379 |
Biemond Syndrome Type 2 |
|
Coloboma, Microphthalmia |
ORPHA:141333 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension, Abnormality of visual evok... |
OMIM:231550 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Optic nerve hypoplasia, Patent ductus arteriosus, Dandy-Walker malformation |
OMIM:617506 |
Joubert Syndrome 14 |
|
Morning glory anomaly, Coloboma, Microphthalmia |
OMIM:614424 |
Marshall-Smith Syndrome |
|
Cerebral atrophy, Optic nerve hypoplasia, Cerebellar hypoplasia, Hypoplasia of the corpus callosu... |
OMIM:602535 |
Antiphospholipid Syndrome, Familial |
|
Retinal vasculitis, Retinal detachment, Central retinal artery occlusion, Vitritis |
OMIM:107320 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Septo-optic dysplasia, Agenesis of cerebellar vermis |
ORPHA:59315 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... |
ORPHA:320401 |
Developmental And Epileptic Encephalopathy 3 |
|
Progressive microcephaly, Abnormality of visual evoked potentials, Cerebral atrophy |
OMIM:609304 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Oculocutaneous Albinism Type 1A |
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Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... |
ORPHA:79431 |
Warburg Micro Syndrome 2 |
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Microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Undetectable visual evoked potent... |
OMIM:614225 |
Norrie Disease |
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Optic atrophy, Retinal detachment, Retinal dysplasia, Retinal fold |
OMIM:310600 |
Pituitary Stalk Interruption Syndrome |
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Septo-optic dysplasia |
ORPHA:95496 |
Anterior Segment Dysgenesis 8 |
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Optic nerve dysplasia |
OMIM:617319 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
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Optic atrophy, Narcolepsy |
OMIM:604121 |
Friedreich Ataxia |
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Optic atrophy, Decreased amplitude of sensory action potentials, Abnormality of visual evoked pot... |
OMIM:229300 |
Infantile Neuroaxonal Dystrophy |
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Abnormal autonomic nervous system physiology, Cerebellar gliosis, Abnormality of visual evoked po... |
ORPHA:35069 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Abnormality of the optic... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Abnormality of the optic... |
ORPHA:352665 |
Proboscis Lateralis |
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Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Patent ductus arteriosus, Microphthalm... |
ORPHA:141099 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Optic nerve hypoplasia, Agenesis of pineal gland, Optic disc coloboma |
ORPHA:536471 |
Holoprosencephaly 9 |
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Optic nerve hypoplasia, Microcephaly, Anophthalmia, Partial agenesis of the corpus callosum, Micr... |
OMIM:610829 |
Facial Clefting, Oblique, 1 |
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Coloboma |
OMIM:600251 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar v... |
ORPHA:495875 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Abnormality of retinal pigmentation, Microphthalmia, Retinal thinning, Cone/cone-rod dystrophy, C... |
ORPHA:85167 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
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Microcephaly, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:1933 |
Wolfram Syndrome 2 |
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Optic atrophy, Optic neuropathy |
OMIM:604928 |
Treacher Collins Syndrome 2 |
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Coloboma |
OMIM:613717 |
Joubert Syndrome 23 |
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Coloboma |
OMIM:616490 |
Familial Multiple Lipomatosis |
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Coloboma, Chorioretinitis |
ORPHA:199276 |
Cherubism |
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Optic neuropathy, Macular scar, Marcus Gunn pupil |
OMIM:118400 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Optic nerve hypoplasia, Agenesis of corpus callosum |
ORPHA:226307 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:309263 |
Oculogastrointestinal Neurodevelopmental Syndrome |
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Bilateral microphthalmos, Unilateral microphthalmos, Coloboma |
OMIM:619318 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Optic nerve hypoplasia |
OMIM:620025 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Macular edema, Retinal cotton wool spot, Retinal neovascularization, Abnormal retinal vascular mo... |
ORPHA:247691 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of visual evoked ... |
ORPHA:206436 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Optic atrophy, Patent ductus arteriosu... |
ORPHA:500150 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Cerebral cortical atrophy, Frontal cortical atrophy, Abnormality of pattern visual evoked potenti... |
ORPHA:2822 |
Fryns Syndrome |
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Aganglionic megacolon, Hypoplasia of the optic tract, Arrhinencephaly, Hypoplasia of olfactory tr... |
OMIM:229850 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Optic nerve hypoplasia, Agenesis of corpus callosum, Septo-optic dysplasia |
ORPHA:95494 |
Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
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Microcephaly, Abnormality of visual evoked potentials, Aplasia/Hypoplasia involving the central n... |
OMIM:614457 |
Hyperoxaluria, Primary, Type I |
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Optic neuropathy, Retinopathy, Optic atrophy, Choroidal neovascularization, Retinal crystals |
OMIM:259900 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Coloboma, Microphthalmia |
OMIM:617306 |
Metachromatic Leukodystrophy, Adult Form |
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Optic atrophy, Abnormality of visual evoked potentials, Orthostatic hypotension due to autonomic ... |
ORPHA:309271 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:1389 |
Persistent Hyperplastic Primary Vitreous |
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Remnants of the hyaloid vascular system, Microphthalmia, Hyaloid vascular remnant and retrolental... |
ORPHA:91495 |
Mogs-Cdg |
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Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Hypo... |
ORPHA:79330 |
Aprosencephaly And Cerebellar Dysgenesis |
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Retinal dysplasia |
OMIM:601374 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hypoplasia of the retina, Retinal degeneration, Coloboma, Optic atrophy, Retinal atrophy, Microph... |
OMIM:253280 |
Solitary Median Maxillary Central Incisor |
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Coloboma, Cyclopia, Anophthalmia, Microphthalmia |
OMIM:147250 |
Acro-Renal-Ocular Syndrome |
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Optic disc coloboma, Coloboma, Iris coloboma, Optic disc hypoplasia, Microphthalmia, Aganglionic ... |
ORPHA:959 |
Late-Infantile/Juvenile Krabbe Disease |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Prolonged brainstem... |
ORPHA:206443 |
8Q24.3 Microdeletion Syndrome |
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Retinal coloboma, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Patent ductus arteri... |
ORPHA:508488 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Retinal fold, Micr... |
OMIM:221900 |
Cln5 Disease |
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Abnormality of visual evoked potentials, Cerebral cortical atrophy, Corpus callosum atrophy |
ORPHA:228360 |
Cockayne Syndrome A |
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Decreased nerve conduction velocity, Cerebral atrophy, Retinal pigment epithelial mottling, Abnor... |
OMIM:216400 |
Anterior Segment Dysgenesis 2 |
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Congenital aphakia, Coloboma, Microphthalmia, Anterior segment of eye aplasia, Aniridia |
OMIM:610256 |
Cerebrotendinous Xanthomatosis |
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Optic neuropathy, Decreased nerve conduction velocity, Abnormal retinal vascular morphology, Hype... |
ORPHA:909 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Cerebral cortical neurodegeneration, Abnormality of visual evoked potentials, Gliosis, Astrocytosis |
OMIM:203700 |
Ruvalcaba Syndrome |
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Microcephaly, Abnormality of visual evoked potentials |
ORPHA:3121 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Microcephaly, Cerebellar vermis hypoplasia, Patent ductus arteriosus, Septo-optic dysplasia, Agen... |
OMIM:619841 |
Hermansky-Pudlak Syndrome |
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Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve |
ORPHA:79430 |
Cockayne Syndrome B |
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Decreased nerve conduction velocity, Cerebral atrophy, Abnormality of visual evoked potentials, M... |
OMIM:133540 |
Fanconi Anemia, Complementation Group E |
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Prolonged G2 phase of cell cycle |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Prolonged G2 phase of cell cycle |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
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Prolonged G2 phase of cell cycle |
OMIM:227645 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Abnormality of visual evoked potentials, Astrocytosis, Facial palsy |
ORPHA:258 |
Fanconi Anemia, Complementation Group D2 |
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Prolonged G2 phase of cell cycle |
OMIM:227646 |
Autosomal Recessive Malignant Osteopetrosis |
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Optic nerve compression, Abnormality of visual evoked potentials |
ORPHA:667 |
Metachromatic Leukodystrophy |
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Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
ORPHA:512 |