Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Stargardt Disease 1 |
|
Macular degeneration, Bull's eye maculopathy, Retinitis pigmentosa inversa |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Drusen, Macular scar |
OMIM:615439 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:609923 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Retinal atrophy, Vitreous hemorrhage, Retinal detachment,... |
OMIM:312700 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... |
OMIM:608850 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy |
OMIM:600790 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal degeneration |
OMIM:180020 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... |
ORPHA:75376 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment |
OMIM:613310 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Tractional retinal detachment, Epiretinal mem... |
ORPHA:891 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... |
OMIM:600059 |
Optic Atrophy 6 |
|
Optic atrophy, Retinal degeneration |
OMIM:258500 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615725 |
Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... |
OMIM:616188 |
Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
Vitreoretinal Degeneration, Snowflake Type |
|
Optically empty vitreous, Retinal detachment, Retinal dots, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Neurodegeneration, Optic atrophy, Cerebellar atrophy, Cerebral atrophy |
OMIM:610951 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal coloboma |
ORPHA:231736 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level, Orthostatic hypotension, Abnormal autonomic nervo... |
ORPHA:441 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Tractional reti... |
ORPHA:40923 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... |
OMIM:165550 |
Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy |
ORPHA:90654 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Peripheral retinal degeneration, Central retinal exudate |
OMIM:264420 |
Retinitis Pigmentosa 86 |
|
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
Vitreoretinochoroidopathy |
|
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... |
OMIM:193220 |
Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
Retinitis Pigmentosa 77 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Retinal atrophy, Bone spicule pigmen... |
OMIM:617304 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... |
OMIM:616468 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Vitritis, Vitreous floaters, Abnormal chorioretinal morphology |
OMIM:605808 |
Microphthalmia/Coloboma 12 |
|
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... |
OMIM:120200 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... |
OMIM:168000 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... |
OMIM:605373 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Neurodegeneration, Optic atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Neurodegeneration, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Cerebral atr... |
OMIM:300894 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Abnorma... |
ORPHA:478029 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma |
OMIM:615113 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Neurodegeneration, Cerebellar atrophy |
ORPHA:438134 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Neurodegeneration, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy |
OMIM:617672 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio... |
OMIM:256600 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Neurodegeneration, Cerebellar atrophy |
OMIM:615889 |
Krabbe Disease |
|
Neurodegeneration, Decreased nerve conduction velocity, Optic atrophy, Diffuse cerebral atrophy |
OMIM:245200 |
Persistent Hyperplastic Primary Vitreous |
|
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,... |
ORPHA:91495 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Hsd10 Disease, Infantile Type |
|
Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Diffuse cere... |
ORPHA:391428 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Neurodegeneration, Cerebellar atrophy, Brain atrophy, Diffuse cerebral atrophy |
OMIM:214150 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Neurodegeneration, Optic atrophy, Cerebellar atrophy, Neuronal loss in central nervous system |
OMIM:616239 |
Neuroblastoma |
|
Elevated circulating catecholamine level, Horner syndrome |
ORPHA:635 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Neurodegeneration, Optic atrophy, Cerebellar atrophy, Cerebral atrophy |
OMIM:615491 |
Cerebral Visual Impairment |
|
Optic atrophy, Central nervous system degeneration, Neurodegeneration, Optic disc pallor, Increas... |
ORPHA:447788 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Neurodegeneration, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy |
OMIM:615157 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... |
OMIM:614643 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... |
ORPHA:247691 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Retinal nonattachment, Remnants of the hyaloid vascular system |
OMIM:221900 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Adrenoleukodystrophy |
|
Neurodegeneration, Primary adrenal insufficiency, Hypogonadism |
OMIM:300100 |
Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Optic atrophy, Cerebral atrophy, Neurodegeneration, Premature thelarche, Hypothyroidism, Prematur... |
OMIM:616878 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Optic atrophy, Periventricular heterotopia |
OMIM:618476 |
Amyotrophic Lateral Sclerosis |
|
Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis |
ORPHA:803 |
Gm2 Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
Pierson Syndrome |
|
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... |
OMIM:609049 |
Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Pancreatic islet cell adenoma, Adrenal pheochromocytoma... |
ORPHA:892 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Neurodegeneration, Optic atrophy, Cerebellar atrophy, Abnormal lower motor neuron morphology |
OMIM:614298 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Neurodegeneration, Optic atrophy, Cerebellar atrophy, Cerebral atrophy |
OMIM:610217 |
Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration, Papilledema |
OMIM:309900 |
Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration |
OMIM:606159 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Neurodegeneration, Cerebral atrophy |
OMIM:618321 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system |
OMIM:620185 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Neurodegeneration, Cerebellar atrophy |
OMIM:615919 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
Chediak-Higashi Syndrome |
|
Neurodegeneration, Decreased nerve conduction velocity |
OMIM:214500 |
Full Nf2-Related Schwannomatosis |
|
Epiretinal membrane, Retinal hamartoma, Abnormal optic nerve morphology, Remnants of the hyaloid ... |
ORPHA:637 |
Mucopolysaccharidosis, Type Vii |
|
Neurodegeneration |
OMIM:253220 |
Hurler Syndrome |
|
Neurodegeneration |
OMIM:607014 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Neurodegeneration, Optic atrophy, Global brain atrophy, Cerebral degeneration |
OMIM:234200 |
Norrie Disease |
|
Optic atrophy, Abnormal vitreous humor morphology, Abnormal retinal vascular morphology, Retinal ... |
ORPHA:649 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurodegeneration, Delayed puberty |
OMIM:619475 |
Nijmegen Breakage Syndrome |
|
Neurodegeneration |
OMIM:251260 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system |
OMIM:300166 |
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Neurodegeneration, Optic nerve hypoplasia |
OMIM:620455 |
Neuroocular Syndrome 1 |
|
Hypoplasia of the fovea, Remnants of the hyaloid vascular system |
OMIM:619539 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Chorioretinal coloboma |
OMIM:157170 |
Primrose Syndrome |
|
Neurodegeneration, Hypothyroidism, Delayed puberty, Diabetes mellitus, Hypergonadotropic hypogona... |
OMIM:259050 |