Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Retinitis Pigmentosa 42 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:165300 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Optic atrophy |
OMIM:618511 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:614296 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Optic atrophy |
OMIM:611721 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degenera... |
OMIM:204200 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia |
OMIM:615085 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Optic disc pallor, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem... |
OMIM:611490 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... |
OMIM:598500 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor |
OMIM:619389 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Macular degeneration, Vacuolated lymphocytes, Optic atrophy, Retinal degeneration |
OMIM:256730 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye... |
OMIM:311070 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Glaucoma 3, Primary Congenital, E |
|
Increased cup-to-disc ratio |
OMIM:617272 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia |
ORPHA:104 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Merrf |
|
Optic atrophy |
ORPHA:551 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
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 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Optic atrophy |
OMIM:620312 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Optic atrophy |
OMIM:620314 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:620221 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:98890 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Optic atrophy, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:619425 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Optic atrophy |
ORPHA:477814 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy |
OMIM:619052 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy |
OMIM:612989 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thromboc... |
OMIM:249270 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Chorioretinal coloboma |
ORPHA:1473 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Leber Congenital Amaurosis 16 |
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Optic disc pallor |
OMIM:614186 |
Optic Atrophy 8 |
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Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Wildervanck Syndrome |
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Pseudopapilledema |
OMIM:314600 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Optic atrophy, Retinal dystrophy, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Opticocochleodentate Degeneration |
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Optic atrophy |
OMIM:258700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Leukopenia, Pancreatitis, Anemia |
ORPHA:27 |
Leber Congenital Amaurosis |
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Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Null Syndrome |
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Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... |
ORPHA:280234 |
Retinitis Pigmentosa 66 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Zika Virus Disease |
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Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Retinal Dystrophy And Microvillus Inclusion Disease |
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Optic disc pallor |
OMIM:619446 |
Late-Onset Retinal Degeneration |
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Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Joubert Syndrome 28 |
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Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Juvenile Glaucoma |
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Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hypocellularit... |
ORPHA:88 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Leber Optic Atrophy |
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Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy |
OMIM:535000 |
Jalili Syndrome |
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Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Craniotelencephalic Dysplasia |
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Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Hypoplastic spleen, Abnormal retinal morphology |
ORPHA:89844 |
Osteopetrosis, Autosomal Recessive 2 |
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Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Cinca Syndrome |
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Hepatomegaly, Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly,... |
ORPHA:1451 |
Lymphatic Malformation 6 |
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Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym... |
OMIM:616843 |
Stt3B-Cdg |
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Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:609033 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
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Optic atrophy |
OMIM:618248 |
Congenital Disorder Of Glycosylation, Type Ix |
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Optic atrophy, Thrombocytopenia |
OMIM:615597 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
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Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Wildervanck Syndrome |
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Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Optic disc pallor, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy |
OMIM:609541 |
Glaucoma, Primary Closed-Angle |
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Increased cup-to-disc ratio |
OMIM:618880 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Retinitis Pigmentosa 74 |
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Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
Aniridia 2 |
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Optic atrophy |
OMIM:617141 |
Osteopetrosis, Autosomal Recessive 1 |
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Hepatomegaly, Pancytopenia, Facial palsy, Thrombocytopenia, Splenomegaly, Optic atrophy, Facial p... |
OMIM:259700 |
Hyper-Igd Syndrome |
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Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L... |
OMIM:260920 |
Cardiac Valvular Dysplasia 1 |
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Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary... |
OMIM:212093 |
Joubert Syndrome 8 |
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Optic disc pallor, Prolonged neonatal jaundice, Pigmentary retinopathy, Hepatomegaly |
OMIM:612291 |
Wolfram Syndrome 1 |
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Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Thrombocytopenia |
OMIM:222300 |
Stormorken Syndrome |
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Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Osteopetrosis, Autosomal Recessive 9 |
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Papilledema, Anemia |
OMIM:620366 |
Papilloma Of Choroid Plexus |
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Papilledema |
OMIM:260500 |
Multiple Sulfatase Deficiency |
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Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, Abnormality of pe... |
ORPHA:585 |
Leber Congenital Amaurosis 15 |
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Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy |
OMIM:616811 |
Chromosome Xp11.3 Deletion Syndrome |
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Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice... |
OMIM:615512 |
Norrie Disease |
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Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia |
OMIM:310600 |
Fuchs Heterochromic Iridocyclitis |
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Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
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Optic disc pallor, Optic atrophy, Optic neuropathy |
OMIM:618249 |
Peroxisome Biogenesis Disorder 1B |
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Hepatomegaly, Optic atrophy, Hepatic fibrosis, Cirrhosis, Rod-cone dystrophy |
OMIM:601539 |
Mirage Syndrome |
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Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia |
OMIM:617053 |
Peroxisome Biogenesis Disorder 4B |
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Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dys... |
OMIM:614863 |
Gracile Bone Dysplasia |
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Asplenia, Hypoplastic spleen |
OMIM:602361 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Optic atrophy, Hepat... |
OMIM:615688 |
Osteopetrosis, Autosomal Recessive 7 |
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Hepatomegaly, Splenomegaly, Optic atrophy, Optic nerve compression, Anemia |
OMIM:612301 |
Pearson Syndrome |
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Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... |
ORPHA:699 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... |
ORPHA:892 |
Cancer-Associated Retinopathy |
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Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Congenital stationary night blindness, Abnormal optic disc morphology, Microcytic anemia |
ORPHA:293967 |
Wolfram Syndrome 2 |
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Optic atrophy, Optic neuropathy |
OMIM:604928 |
Sympathetic Ophthalmia |
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Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
Stankiewicz-Isidor Syndrome |
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Abnormal optic disc morphology |
OMIM:617516 |
Hyperoxaluria, Primary, Type I |
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Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy |
OMIM:259900 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Kenny-Caffey Syndrome, Type 2 |
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Retinal calcification, Papilledema, Anemia |
OMIM:127000 |
Leptospirosis |
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Papilledema, Hepatomegaly, Jaundice, Retinal hemorrhage, Hepatitis, Lymphadenopathy, Chorioretini... |
ORPHA:509 |
Microphthalmia, Syndromic 9 |
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Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy |
ORPHA:397715 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Facial palsy, Optic nerve hypoplasia, Abnormal optic disc morphology, Retinal coloboma, Exocrine ... |
ORPHA:508498 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
7Q11.23 Microduplication Syndrome |
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Abnormal optic disc morphology |
ORPHA:96121 |
Aprosencephaly And Cerebellar Dysgenesis |
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Aprosencephaly |
OMIM:601374 |