Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 42 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Optic atrophy |
OMIM:618511 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:165300 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy |
OMIM:618572 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy |
OMIM:615658 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Optic atrophy |
OMIM:615043 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Nephronophthisis |
|
Abnormality of retinal pigmentation, Anemia |
ORPHA:655 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment |
OMIM:613310 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:614296 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy |
ORPHA:320396 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy |
ORPHA:1538 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy |
OMIM:611726 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Optic atrophy |
OMIM:608611 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Optic atrophy |
OMIM:616859 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Glaucoma 3, Primary Congenital, E |
|
Increased cup-to-disc ratio |
OMIM:617272 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor |
OMIM:619389 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Camos Syndrome |
|
Optic atrophy |
ORPHA:83472 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... |
OMIM:311070 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy |
ORPHA:2572 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degenera... |
OMIM:204200 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia |
ORPHA:104 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Peripheral axonal neuropathy, Optic atrophy |
ORPHA:468661 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Merrf |
|
Optic atrophy |
ORPHA:551 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Optic atrophy |
OMIM:618768 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Macular degeneration, Vacuolated lymphocytes, Optic atrophy, Retinal degeneration |
OMIM:256730 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy |
OMIM:617830 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy |
OMIM:619323 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy |
OMIM:300928 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Optic atrophy |
OMIM:620312 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
Nanophthalmos 4 |
|
Optic disc drusen |
OMIM:615972 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Peripheral axonal neuropathy, Optic atrophy |
ORPHA:320360 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Optic atrophy |
OMIM:620314 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Cavitary Optic Disc Anomalies |
|
Peripapillary atrophy |
OMIM:611543 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy |
OMIM:613162 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:617082 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy |
OMIM:619303 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma |
ORPHA:1473 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy |
ORPHA:1171 |
Cherubism |
|
Optic atrophy |
ORPHA:184 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:620221 |
Abetalipoproteinemia |
|
Retinopathy, Peripheral demyelination, Retinal degeneration, Acanthocytosis |
OMIM:200100 |
Nescav Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:614255 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy |
OMIM:619052 |
Combined Saposin Deficiency |
|
Splenomegaly, Optic atrophy |
OMIM:611721 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... |
OMIM:598500 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:617207 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Osteopetrosis, Autosomal Recessive 8 |
|
Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor |
OMIM:616732 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:619425 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy |
OMIM:258501 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... |
OMIM:611490 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy |
OMIM:616171 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy |
ORPHA:1513 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Optic atrophy |
OMIM:274270 |
Aniridia 2 |
|
Aniridia, Optic atrophy, Iris coloboma |
OMIM:617141 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:98890 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Neuroectodermal Melanolysosomal Disease |
|
Macular dystrophy, Optic atrophy, Abnormal optic nerve morphology, Aplasia/Hypoplasia of the macula |
ORPHA:33445 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Optic disc pallor, Optic atrophy |
OMIM:617086 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thromboc... |
OMIM:249270 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation |
OMIM:615035 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy |
OMIM:615338 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor |
OMIM:614186 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy |
ORPHA:411590 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy |
OMIM:612989 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Retinal dysplasia |
ORPHA:324416 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Leukoencephalopathy With Ataxia |
|
Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy |
OMIM:615651 |
Cataract 21, Multiple Types |
|
Retinal detachment, Macular hypoplasia, Iris coloboma |
OMIM:610202 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Optic Atrophy 1 |
|
Optic atrophy |
OMIM:165500 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal dystrophy, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Sensory axonal neuropathy |
ORPHA:329314 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy |
OMIM:613672 |
Sclerosteosis |
|
Optic atrophy, Facial palsy |
ORPHA:3152 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy |
OMIM:300983 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Optic atrophy |
ORPHA:477814 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy |
OMIM:619470 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Facial diplegia, Optic atrophy |
OMIM:122860 |
Null Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... |
ORPHA:280234 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Optic atrophy |
OMIM:618229 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy |
OMIM:613151 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Iris coloboma |
ORPHA:2185 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Leber optic atrophy |
OMIM:500001 |
Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy |
OMIM:609056 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy |
OMIM:619690 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration |
OMIM:252650 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy |
ORPHA:352682 |
Spastic Paraplegia 2, X-Linked |
|
Optic atrophy |
OMIM:312920 |
L-2-Hydroxyglutaric Aciduria |
|
Optic atrophy |
OMIM:236792 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Van Buchem Disease |
|
Optic atrophy from cranial nerve compression |
OMIM:239100 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Diencephalic Syndrome |
|
Optic atrophy |
ORPHA:1672 |
Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy |
OMIM:535000 |
Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Infantile Cerebellar-Retinal Degeneration |
|
Optic atrophy, Retinal dystrophy |
OMIM:614559 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Developmental And Epileptic Encephalopathy 61 |
|
Optic atrophy |
OMIM:617933 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration |
OMIM:300438 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral action potential amplitud... |
ORPHA:457205 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Coloboma, Ocular, Autosomal Recessive |
|
Optic disc coloboma, Retinal coloboma, Iris coloboma |
OMIM:216820 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Optic atrophy |
OMIM:300475 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Optic atrophy |
OMIM:618236 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy |
ORPHA:254343 |
Developmental And Epileptic Encephalopathy 48 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:617276 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy |
ORPHA:99014 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy |
OMIM:619057 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:619686 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Leukodystrophy, Hypomyelinating, 21 |
|
Optic atrophy |
OMIM:619310 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy |
OMIM:605259 |
Sarcosinemia |
|
Optic atrophy |
ORPHA:3129 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Iris coloboma, Optic disc coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:602499 |
Wildervanck Syndrome |
|
Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Cherry red spot of the macula, Optic disc pallor |
OMIM:615281 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma |
OMIM:212550 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Optic atrophy, Anemia, Neutropenia |
ORPHA:289916 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
Stt3B-Cdg |
|
Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
Srd5A3-Cdg |
|
Optic disc hypoplasia, Microcytic anemia, Optic atrophy, Coloboma, Rod-cone dystrophy |
ORPHA:324737 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Optic atrophy, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:27 |
Schindler Disease, Type I |
|
Optic atrophy |
OMIM:609241 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Optic disc pallor |
OMIM:618230 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Renal Coloboma Syndrome |
|
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia |
ORPHA:1475 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Iris coloboma |
OMIM:616722 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:609033 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Optic atrophy, Retinal dysplasia |
ORPHA:272 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Thrombocytopenia |
OMIM:615597 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Hepatosplenomegaly |
ORPHA:466794 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy |
OMIM:609541 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Optic atrophy |
OMIM:617954 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Optic atrophy |
OMIM:248000 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Abnormality of macular pigmentation, Abnormal autonomic nervous ... |
ORPHA:97229 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Optic atrophy, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy |
ORPHA:137867 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy |
OMIM:618688 |
Neuronal Intranuclear Inclusion Disease |
|
Optic atrophy |
ORPHA:2289 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Optic Pathway Glioma |
|
Papilledema, Neurofibroma, Optic atrophy |
ORPHA:2086 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Abnormal retinal morphology, Facial palsy, Optic atrophy, Optic neuritis, Sensory axonal neuropathy |
ORPHA:254886 |
Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
3-Methylglutaconic Aciduria Type 9 |
|
Optic atrophy |
ORPHA:505216 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor |
OMIM:619170 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2801 |
Triple A Syndrome |
|
Optic atrophy, Iris coloboma, Motor axonal neuropathy |
ORPHA:869 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra... |
OMIM:619260 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
Antiphospholipid Syndrome, Familial |
|
Retinal detachment, Autoimmune thrombocytopenia, Vitritis, Central retinal artery occlusion, Reti... |
OMIM:107320 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor |
ORPHA:3173 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Optic atrophy |
OMIM:607196 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy |
OMIM:614651 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Optic atrophy |
OMIM:618800 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Lissencephaly 5 |
|
Optic atrophy |
OMIM:615191 |
Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor |
OMIM:619328 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Autoimmune thromboc... |
OMIM:245200 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Optic atrophy |
ORPHA:1154 |
Arts Syndrome |
|
Optic atrophy |
OMIM:301835 |
Woods Syndrome |
|
Optic atrophy |
OMIM:615236 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Optic atrophy, Facial palsy |
OMIM:614707 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Thrombocytopenia |
OMIM:222300 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Anemia |
OMIM:620366 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Decreased nerve conduction velocity, Rod-cone dystrophy, Optic atrophy |
OMIM:612674 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor |
OMIM:618240 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:617166 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Optic atrophy |
ORPHA:1177 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Retinal fold |
OMIM:152950 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Absent foveal reflex, Peripapillary atrophy, Dull fove... |
OMIM:216900 |
Spastic Paraplegia Type 2 |
|
Optic atrophy |
ORPHA:99015 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb... |
ORPHA:423479 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor |
OMIM:616204 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy |
OMIM:616811 |
Norrie Disease |
|
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia |
OMIM:310600 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor |
OMIM:613730 |
Behr Syndrome |
|
Optic atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm |
OMIM:210000 |
3-Methylglutaconic Aciduria, Type I |
|
Optic atrophy |
OMIM:250950 |
Progressive Myoclonic Epilepsy Type 3 |
|
Optic atrophy |
ORPHA:263516 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Coloboma, Optic atrophy, Microcytic anemia |
OMIM:612379 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Developmental And Epileptic Encephalopathy 93 |
|
Optic atrophy, Iris coloboma |
OMIM:618012 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Abnormal retinal vascular morphology, Macular edema,... |
ORPHA:247691 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Infantile Refsum Disease |
|
Rod-cone dystrophy, Optic atrophy, Facial palsy |
ORPHA:772 |
Proximal Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Optic atrophy |
ORPHA:401768 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... |
OMIM:614643 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Optic atrophy, Facial palsy, Anemia |
ORPHA:53 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Idiopathic Intracranial Hypertension |
|
Papilledema |
ORPHA:238624 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Sensory axonal neuropathy, Facial palsy |
OMIM:608804 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... |
OMIM:601152 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Optic atrophy |
OMIM:610198 |
Hyperostosis Cranialis Interna |
|
Optic atrophy, Facial palsy |
OMIM:144755 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy |
OMIM:612438 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy |
ORPHA:504476 |
Cinca Syndrome |
|
Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly, Abnormal gran... |
ORPHA:1451 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy |
ORPHA:496756 |
Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic atrophy, Abnormal erythrocyte enzyme level, Abno... |
ORPHA:1187 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic atrophy, Optic neuropathy |
OMIM:618249 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Facial paralysis, Thrombocytopenia |
OMIM:259700 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Facial diplegia, Facial paralysis, Optic atrophy |
OMIM:613559 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Optic disc pallor |
OMIM:617762 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy |
ORPHA:101076 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro... |
ORPHA:3205 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Optic atrophy |
OMIM:618233 |
Walker-Warburg Syndrome |
|
Retinal detachment, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abnormal optic ner... |
ORPHA:899 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2715 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Hepatosplenomegaly |
ORPHA:466934 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Optic atrophy, Facial palsy |
OMIM:218400 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy |
OMIM:618868 |
Distal Deletion 13Q |
|
Optic atrophy, Iris coloboma |
ORPHA:1590 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Muscle-Eye-Brain Disease |
|
Optic atrophy |
ORPHA:588 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve... |
ORPHA:585 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia |
OMIM:620185 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary retinopathy, Rod-cone ... |
ORPHA:96180 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Motor axonal neuropathy |
ORPHA:289560 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Normochromic anemia, Thrombocytopenia |
OMIM:618775 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy |
OMIM:614863 |
Wolfram Syndrome 2 |
|
Optic atrophy, Optic neuropathy |
OMIM:604928 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Splenomegaly, Normochr... |
OMIM:615512 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Pancytopenia, Hepatosplenomegaly |
ORPHA:309288 |
Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:485421 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Onion bulb formation, Optic neuropathy |
ORPHA:320375 |
Dysosteosclerosis |
|
Optic atrophy, Abnormal cranial nerve morphology |
ORPHA:1782 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy, Anemia |
ORPHA:436271 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Ro... |
ORPHA:157850 |
Roifman-Chitayat Syndrome |
|
Optic atrophy |
OMIM:613328 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Optic atrophy |
ORPHA:98768 |
Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Papilledema, Anemia |
OMIM:127000 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy |
OMIM:610651 |
Stankiewicz-Isidor Syndrome |
|
Abnormal optic disc morphology |
OMIM:617516 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Abnormal optic disc morphology, Microcytic anemia |
ORPHA:293967 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea... |
ORPHA:892 |
Hyperoxaluria, Primary, Type I |
|
Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy |
OMIM:259900 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma |
OMIM:615219 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy, Anemia |
OMIM:220110 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Motor axona... |
OMIM:231550 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy |
OMIM:261680 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Le... |
OMIM:259720 |
Peroxisome Biogenesis Disorder 1B |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:601539 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination |
OMIM:250100 |
Phace Association |
|
Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Optic atrophy |
ORPHA:95433 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Optic atrophy |
OMIM:609037 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor |
OMIM:614195 |
Friedreich Ataxia |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... |
OMIM:229300 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Optic nerve compression, Optic atrophy, Anemia |
OMIM:612301 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy |
OMIM:604121 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Rod-cone dystrophy |
OMIM:260920 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Coloboma, Retinal dys... |
OMIM:236670 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Retinal vascular proliferation, Leukoc... |
OMIM:308300 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
Bardet-Biedl Syndrome 20 |
|
Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy |
OMIM:619471 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Retinopathy, Optic atrophy |
ORPHA:220295 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... |
ORPHA:1435 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Cranial nerve compr... |
ORPHA:2785 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Papilledema, Anemia |
ORPHA:93325 |
Joubert Syndrome 21 |
|
Retinopathy, Splenomegaly, Optic atrophy, Megalopapilla |
OMIM:615636 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Acanthocytosis |
OMIM:234200 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Primary Hyperoxaluria |
|
Retinopathy, Optic disc pallor, Optic atrophy, Choroidal neovascularization |
ORPHA:416 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Optic atrophy, Coloboma, Hypoplasia of the retina, Retinal dysplasia, Retinal de... |
OMIM:253280 |
Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Chorioretinal atrophy, Vitreoretinopathy, Macular hypoplas... |
OMIM:267750 |
Pineoblastoma |
|
Papilledema, Retinoblastoma |
ORPHA:251909 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy |
ORPHA:397715 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... |
ORPHA:508498 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:619321 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:300166 |
Leptospirosis |
|
Papilledema, Retinal hemorrhage, Chorioretinitis, Optic neuritis, Macular cotton wool spot, Throm... |
ORPHA:509 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:619539 |
7Q11.23 Microduplication Syndrome |
|
Abnormal optic disc morphology |
ORPHA:96121 |