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 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
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 |
Foveal Hypoplasia 1 |
|
Congenital nystagmus, Hypoplasia of the fovea |
OMIM:136520 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Cerebellar vermis hypoplasia, Impaired smooth pursuit, Truncal titubation, Gaze-evoked horizontal... |
OMIM:618800 |
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 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Leukodystrophy, Hypomyelinating, 16 |
|
Nystagmus, Horizontal nystagmus, Rotary nystagmus, Gaze-evoked nystagmus, Optic disc pallor, Pend... |
OMIM:617964 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Nystagmus, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy, Saccadic smooth pursuit, Intention tremor |
OMIM:620221 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Nystagmus, Optic atrophy, Microcephaly |
OMIM:620086 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
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 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
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 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Cerebral Visual Impairment |
|
Nystagmus, Optic disc pallor, Impaired smooth pursuit, Optic nerve hypoplasia, Microcephaly, Opti... |
ORPHA:447788 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Lissencephaly, Cerebellar hypoplasia, Microphthalmia, Agenesis of corpus ... |
OMIM:218670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, ... |
OMIM:615181 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Joubert Syndrome 40 |
|
Oculomotor apraxia, Optic nerve hypoplasia |
OMIM:619582 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Neuroectodermal Melanolysosomal Disease |
|
Nystagmus, Tremor, Optic atrophy, Strabismus, Subcortical cerebral atrophy, Abnormal optic nerve ... |
ORPHA:33445 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Nystagmus, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Oculocutaneous Albinism Type 6 |
|
Nystagmus, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morpholo... |
ORPHA:370097 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:250972 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Lissencephaly Due To Tuba1A Mutation |
|
Nystagmus, Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Cerebellar vermis hypoplasia, M... |
ORPHA:171680 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Optic Nerve Hypoplasia, Bilateral |
|
Nystagmus, Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, ... |
OMIM:165550 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Strabismus, Optic nerve hypoplasia, Gaze-evoked nystagmus, Esophoria |
OMIM:614306 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Nystagmus, Peripheral axonal neuropathy, Optic atrophy, Strabismus, Abnormal autonomic nervous sy... |
OMIM:610743 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Nystagmus, Alternating esotropia, Strabismus, Foveal hyperpigmentation, ... |
OMIM:609218 |
X-Linked Intellectual Disability, Najm Type |
|
Nystagmus, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Strabismus, Cerebellar hypoplasia... |
ORPHA:163937 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Albinism, Oculocutaneous, Type Iv |
|
Nystagmus, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Dystonia 34, Myoclonic |
|
Rotary nystagmus, Torticollis, Impaired smooth pursuit, Writer's cramp, Hypermetric saccades, Han... |
OMIM:619724 |
Chromosome 19P13.13 Deletion Syndrome |
|
Nystagmus, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Strabismus |
OMIM:613638 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Pontocerebellar Hypoplasia, Type 2A |
|
Impaired smooth pursuit, Microcephaly, Hypoplasia of the pons, Optic atrophy, Opisthotonus, Cereb... |
OMIM:277470 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Spinocerebellar Ataxia 13 |
|
Nystagmus, Optic atrophy, Jerky ocular pursuit movements |
OMIM:605259 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Abnormal visual fixation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618890 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Albinism, Oculocutaneous, Type V |
|
Hypoplasia of the fovea, Nystagmus |
OMIM:615312 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
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 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Optic atrophy, Lissencephaly, Cerebellar hypoplasia, Microph... |
ORPHA:1528 |
5Q14.3 Microdeletion Syndrome |
|
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Strabismus, Hypoplasia of the corpus callo... |
ORPHA:228384 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Peripheral axonal neuropathy, Torticollis, Optic atrophy, Saccadic smooth pursuit |
OMIM:619686 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Nystagmus, Retinal atrophy, Type II lissencephaly, Microcephaly, Optic atrophy, Aplasia/Hypoplasi... |
OMIM:253280 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Nystagmus, Peripheral axonal neuropathy, Saccadic smooth pursuit, Hand tremor, Pigmentary retinop... |
ORPHA:100996 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
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 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Achromatopsia |
|
Hypoplasia of the fovea, Eccentric visual fixation, Retinal pigment epithelial atrophy, Retinal p... |
ORPHA:49382 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Dysmetric saccades, Optic atrophy, Saccadic smooth pursuit, Intention tremor |
ORPHA:466794 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Gaze-evoked nystagmus, Impaired smooth pursuit, Macular degeneration, Abnormal au... |
ORPHA:247234 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gaze-evoked nystagmus, Postural tremor, Tremor, Optic atrophy, Vertical supranuclear gaze palsy, ... |
OMIM:607694 |
Cherubism |
|
Macular scar, Marcus Gunn pupil, Optic neuropathy |
OMIM:118400 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Spinocerebellar Ataxia 8 |
|
Nystagmus, Impaired smooth pursuit, Tremor, Slow saccadic eye movements, Dysmetric saccades |
OMIM:608768 |
Leukodystrophy, Hypomyelinating, 9 |
|
Nystagmus, Absent smooth pursuit, Rotary nystagmus, Microcephaly, Cerebral atrophy, Hypoplasia of... |
OMIM:616140 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Peroxisome Biogenesis Disorder 6B |
|
Nystagmus, Retinal dystrophy, Impaired smooth pursuit, Motor axonal neuropathy, Dysmetric saccade... |
OMIM:614871 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
Spinocerebellar Ataxia 27A |
|
Upbeat nystagmus, Absent smooth pursuit, Gaze-evoked nystagmus, Impaired smooth pursuit, Postural... |
OMIM:193003 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Dysmetric saccades, A... |
OMIM:606658 |
Leber Congenital Amaurosis 15 |
|
Nystagmus, Optic disc pallor, Impaired smooth pursuit, Pigmentary retinopathy, Peripapillary atro... |
OMIM:613843 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Strabismus, Agenesis of corpus call... |
OMIM:618736 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the po... |
ORPHA:370959 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Action tremor, Saccadic smooth pursuit, Strabismus, Cerebellar hypo... |
ORPHA:314978 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment |
OMIM:613310 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Cerebellar hypoplasia, Optic nerve hypoplasia |
ORPHA:65288 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Horizontal nystagmus, Saccadic smooth pursuit, Downbeat nystagmus, Macular degeneration, Dysmetri... |
ORPHA:284289 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
Septooptic Dysplasia |
|
Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Nystagmus, Optic atrophy, Jerky ocular pursuit movements |
ORPHA:1177 |
Spinocerebellar Ataxia Type 11 |
|
Horizontal nystagmus, Vertical nystagmus, Jerky ocular pursuit movements, Dystonia |
ORPHA:98767 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Strabismus, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia |
ORPHA:137634 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Spinocerebellar Ataxia 2 |
|
Gaze-evoked nystagmus, Postural tremor, Ophthalmoplegia, Impaired horizontal smooth pursuit, Slow... |
OMIM:183090 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Nystagmus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Strabismus, Hypoplasia o... |
ORPHA:401777 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Joubert Syndrome 2 |
|
Nystagmus, Abnormal saccadic eye movements, Rotary nystagmus, Retinal dystrophy, Impaired smooth ... |
OMIM:608091 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Lissencephaly, Microphthalmia, Polymicrogyria, Agenesis of ... |
OMIM:614833 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Strabismus, C... |
OMIM:617914 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Joubert Syndrome 1 |
|
Optic disc pallor, Abnormal saccadic eye movements, Cerebellar vermis hypoplasia, Retinal dystrop... |
OMIM:213300 |
Spinocerebellar Ataxia 5 |
|
Rotary nystagmus, Gaze-evoked nystagmus, Impaired smooth pursuit, Strabismus, Horizontal jerk nys... |
OMIM:600224 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Nystagmus, Postural tremor, Optic atrophy, Vertical supranuclear gaze palsy, Abnormality of ocula... |
ORPHA:447896 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Nystagmus, Optic disc pallor, Gaze-evoked nystagmus, O... |
OMIM:164400 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Nystagmus |
OMIM:113750 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Strabismus, Aplasia/Hypoplasia of the cerebellum, Pachygyria, Optic nerve hypoplasia |
ORPHA:572013 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Horizontal nystagmus, Tremor, Optic atrophy, Impaired horizontal smooth pursuit, Hypoplasia of th... |
OMIM:614381 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Nystagmus, Impaired smooth pursuit, Decreased number o... |
OMIM:270550 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Nystagmus, Decreased distal sensory nerve action potential, Gaze-evoked nystagmus, Vestibular are... |
OMIM:614575 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Nystagmus, Chorioretinal hypopigmentation |
OMIM:619165 |
Spinocerebellar Ataxia 34 |
|
Nystagmus, Peripheral axonal neuropathy, Impaired smooth pursuit, Supranuclear gaze palsy, Cerebr... |
OMIM:133190 |
Spinocerebellar Ataxia 46 |
|
Nystagmus, Slow saccadic eye movements, Sensory axonal neuropathy, Jerky ocular pursuit movements |
OMIM:617770 |
Spinocerebellar Ataxia 19 |
|
Nystagmus, Postural tremor, Gaze-evoked horizontal nystagmus, Saccadic smooth pursuit, Intermitte... |
OMIM:607346 |
Ã…land Islands Eye Disease |
|
Hypoplasia of the fovea, Nystagmus, Hypopigmentation of the fundus |
ORPHA:178333 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Gaze-evoked nystagmus, Postural tremor, Hypermetric saccades, Saccadic smooth pursui... |
OMIM:619862 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Dandy-Walker malformation, Subcortical heterotopia, Remnants of the hyaloid v... |
OMIM:614643 |
Aland Island Eye Disease |
|
Hypoplasia of the fovea, Nystagmus |
OMIM:300600 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Optic atrophy, Strabismus, Macular hypoplasia, Lissencephaly |
ORPHA:2185 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Intention tremor, Nystagmus, Jerky ocular pursuit movements, Hypometric saccades |
OMIM:615386 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Gaze-evoked nystagmus, Impaired smooth pursuit, Choreoathetosis, Horizontal jerk nystagmus, Dysto... |
OMIM:604391 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
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 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Nystagmus, Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy, Esotropia |
ORPHA:496790 |
Congenital Fibrosis Of Extraocular Muscles |
|
Nonprogressive restrictive external ophthalmoplegia, Compensatory chin elevation, Torticollis, Op... |
ORPHA:45358 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Impaired smooth pursuit, Periventricular heterotopia, Hypoplasia of the brainstem, Cerebellar hyp... |
ORPHA:255138 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia |
OMIM:246000 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar vermis hypoplasia, Gaze-evoked nystagmus, Slow saccadic eye movements, Abnormality of ... |
ORPHA:251347 |
Aniridia 1 |
|
Hypoplasia of the fovea, Nystagmus, Optic nerve hypoplasia, Strabismus, Hypoplasia of the iris, C... |
OMIM:106210 |
Spinocerebellar Ataxia 26 |
|
Nystagmus, Impaired horizontal smooth pursuit, Dysmetric saccades |
OMIM:609306 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Horizontal nystagmus, Nystagmus, Retinal atrophy, Gaze-evoked nystagmus, Postural tremor, Hypopla... |
ORPHA:412057 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro... |
OMIM:620157 |
Optic Atrophy 11 |
|
Optic nerve hypoplasia, Microcephaly, Optic atrophy, Strabismus, Facial diplegia, Athetosis, Cere... |
OMIM:617302 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Glaucoma 3, Primary Congenital, E |
|
Increased cup-to-disc ratio |
OMIM:617272 |
Isolated Aniridia |
|
Aniridia, Nystagmus, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Nystagmus, Exaggerated startle response, Optic nerve hypoplasia, Microcephaly, Strabismus, Hypopl... |
OMIM:617864 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Nystagmus, Saccadic smooth pursuit |
ORPHA:404499 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Nystagmus, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Intention tremor |
OMIM:618381 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Nystagmus, Diffuse cerebral atrophy, Absent smooth pursuit, Microcephaly, Hypoplasia of the corpu... |
ORPHA:438114 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal saccadic eye movements, Cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... |
ORPHA:300570 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Nystagmus, Gaze-evoked nystagmus, Tremor, Saccadic smooth pursuit, Cerebellar hypoplasia |
OMIM:213200 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Absent smooth pursuit, Optic atrophy, Strabismus, Cerebellar hypoplasia, Progressive microcephaly |
ORPHA:329178 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Nystagmus, Cerebellar vermis hypoplasia, Impaired smooth pursuit, Tremor, Cerebral atrophy, Athet... |
ORPHA:572798 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Nystagmus, Horizontal nystagmus, Strabismus, Jerky ocular pursuit movements, Dysmetric saccades, ... |
ORPHA:352403 |
Autosomal Recessive Ataxia, Beauce Type |
|
Abnormal saccadic eye movements, Impaired smooth pursuit, Ophthalmoparesis, Strabismus, Arm dysto... |
ORPHA:88644 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Retinal dystrophy, Optic nerve hypoplasia, Microcephaly, Progressive microcephaly, Cerebellar hyp... |
OMIM:300953 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Nystagmus, Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Simpl... |
OMIM:300749 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Spinocerebellar Ataxia Type 13 |
|
Nystagmus, Optic disc pallor, Torticollis, Optic atrophy, Upgaze palsy, Titubation, Jerky ocular ... |
ORPHA:98768 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Nystagmus, Saccadic smooth pursuit |
OMIM:615705 |
Spinocerebellar Ataxia 6 |
|
Nystagmus, Impaired smooth pursuit, Gaze-evoked horizontal nystagmus, Abnormal vestibulo-ocular r... |
OMIM:183086 |
Spastic Paraplegia 54, Autosomal Recessive |
|
Strabismus, Optic nerve hypoplasia, Hypoplasia of the corpus callosum |
OMIM:615033 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Gaze-evoked nystagmus, Saccadic smooth pursuit |
ORPHA:98763 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Simplified gyral pattern, Optic nerve hypoplasia, Primary microcephaly |
OMIM:618828 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Impaired horizontal smooth pursuit, Cerebral atrophy, Choreoathetosis, Hypoplasia of the ... |
OMIM:612164 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Nystagmus, Gaze-evoked horizontal nystagmus, Abnormality of ocular smooth pursuit |
ORPHA:284271 |
Lissencephaly Due To Lis1 Mutation |
|
Cerebellar vermis hypoplasia, Impaired smooth pursuit, Opisthotonus, Progressive microcephaly, An... |
ORPHA:95232 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Nystagmus, Peripheral axonal neuropathy, Tremor, Optic atrophy, Impaired pursuit initiation and m... |
ORPHA:137898 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Nystagmus, Impaired smooth pursuit, Optic atrophy, Cerebral atrophy, Dystonia, Intention tremor |
OMIM:610217 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Dystonia, Bull's eye maculopathy, Impaired convergence, Optic atrophy, Cra... |
ORPHA:157850 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
X-Linked Progressive Cerebellar Ataxia |
|
Nystagmus, Axonal loss, Saccadic smooth pursuit, Intention tremor |
ORPHA:1175 |
Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Nystagmus, Nystagmus-induced head nodding, Ocular albinism, Depigmented ... |
OMIM:300500 |
Spinocerebellar Ataxia Type 26 |
|
Nystagmus, Impaired horizontal smooth pursuit, Dysmetric saccades |
ORPHA:101112 |
Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
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 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Cardiofaciocutaneous Syndrome 4 |
|
Strabismus, Nystagmus, Cerebellar hypoplasia, Optic nerve hypoplasia |
OMIM:615280 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Writer's cramp, Impaired smooth pursuit, Leg dystonia, Upgaze pa... |
ORPHA:157846 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Nystagmus, Impaired smooth pursuit, Microcephaly, Strabismus, Polymicrogyria |
ORPHA:488613 |
Leukoencephalopathy With Ataxia |
|
Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy |
OMIM:615651 |
Coloboma, Ocular, Autosomal Dominant |
|
Nystagmus, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, O... |
OMIM:120200 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Gaze-evoked nystagmus, Hypermetric saccades, Jerky ocular pursuit movements, Cerebra... |
OMIM:618369 |
Mannosidosis, Alpha B, Lysosomal |
|
Nystagmus, Impaired smooth pursuit, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal d... |
OMIM:248500 |
Spinocerebellar Ataxia Type 10 |
|
Nystagmus, Kinetic tremor, Gaze-evoked nystagmus, Impaired smooth pursuit, Intention tremor |
ORPHA:98761 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Nystagmus, Diffuse cerebral atrophy, Absent smooth pursuit, Microcephaly, Optic atrophy, Strabism... |
OMIM:617193 |
Bresek Syndrome |
|
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly |
ORPHA:85284 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer... |
OMIM:606353 |
Spinocerebellar Ataxia 11 |
|
Nystagmus, Jerky ocular pursuit movements |
OMIM:604432 |
Machado-Joseph Disease |
|
Gaze-evoked nystagmus, External ophthalmoplegia, Impaired horizontal smooth pursuit, Supranuclear... |
OMIM:109150 |
Septo-Optic Dysplasia Spectrum |
|
Nystagmus, Septo-optic dysplasia, Optic nerve hypoplasia, Strabismus, Aplasia/Hypoplasia of the c... |
ORPHA:3157 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Gaze-evoked horizontal nystagmus, Impaired smooth pursuit |
OMIM:614229 |
Huntington Disease-Like 1 |
|
Nystagmus, Abnormal saccadic eye movements, Slow saccadic eye movements, Abnormality of ocular sm... |
ORPHA:157941 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Nystagmus, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Nystagmus, Cerebral atrophy, Hand tremor, Head tremor, Jerky ocular pursuit movements, Hypoplasia... |
OMIM:614409 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
Spinocerebellar Ataxia 36 |
|
Vertical supranuclear gaze palsy, Nystagmus, Slow saccadic eye movements, Impaired smooth pursuit |
OMIM:614153 |
Spinocerebellar Ataxia 4 |
|
Impaired smooth pursuit |
OMIM:600223 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Horizontal nystagmus, Postural tremor, Saccadic smooth pursuit, Oculomotor apraxia, Dysmetric sac... |
ORPHA:284324 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Nystagmus, Exotropia, Strabismus, Hypopigmentation of the fundus |
OMIM:203200 |
Spinocerebellar Ataxia Type 19/22 |
|
Nystagmus, Ophthalmoplegia, Impaired smooth pursuit |
ORPHA:98772 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Nystagmus, Peripheral axonal neuropathy, Corpus callosum atrophy, Cerebral atrophy, Jerky ocular ... |
ORPHA:320391 |
Cataract 21, Multiple Types |
|
Retinal detachment, Macular hypoplasia |
OMIM:610202 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Stt3A-Cdg |
|
Impaired smooth pursuit, Microcephaly |
ORPHA:370921 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Caudate atrophy, Cerebellar vermis hypoplasia, Optic nerve hypoplas... |
OMIM:615574 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... |
OMIM:617406 |
Squalene Synthase Deficiency |
|
Polymicrogyria, Optic nerve hypoplasia, Hypoplasia of the corpus callosum |
OMIM:618156 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Retinal dysplasia |
OMIM:614830 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Dandy-Walker malformation, Retinal atrophy, Agyria, Optic nerve hypoplasia, M... |
OMIM:236670 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Oculomotor apraxia, Impaired smooth pursuit, Motor axonal neuropathy |
ORPHA:247815 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Strabismus, Optic nerve hypoplasia |
ORPHA:363686 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Neurogenic bladder, Optic atrophy |
OMIM:618248 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Episodic Ataxia Type 4 |
|
Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus |
ORPHA:79136 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Micro... |
OMIM:620155 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Absent smooth pursuit, Dystonia, Optic atrophy, Secondary microcephaly, Hypoplasia of the corpus ... |
ORPHA:496641 |
Dentatorubral Pallidoluysian Atrophy |
|
Nystagmus, Optic neuropathy, Saccadic smooth pursuit, Ophthalmoparesis, Choreoathetosis, Blepharo... |
ORPHA:101 |
Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity, Nystagmus, Impaired smooth pursuit |
OMIM:603516 |
Spinocerebellar Ataxia 17 |
|
Diffuse cerebral atrophy, Gaze-evoked nystagmus, Impaired pursuit initiation and maintenance, Dys... |
OMIM:607136 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Cerebral atrophy, Strabismus, Hypop... |
OMIM:612513 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Verheij Syndrome |
|
Optic nerve hypoplasia, Cerebral atrophy, Microcephaly |
OMIM:615583 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Nystagmus, Optic nerve hypoplasia, Microcephaly, Strabismus, Cerebellar hypoplasia, Hypoplasia of... |
OMIM:301056 |
19P13.13 Microdeletion Syndrome |
|
Nystagmus, Optic nerve hypoplasia, Corpus callosum atrophy, Optic atrophy, Strabismus, Hypoplasia... |
ORPHA:357001 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Oculomotor apraxia, Horizontal nystagmus, Hypermetric saccades, Saccadic smooth pursuit |
OMIM:617633 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Spinocerebellar Ataxia Type 8 |
|
Hypoplasia of the pons, Nystagmus, Impaired smooth pursuit, Dystonia |
ORPHA:98760 |
Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased retinal vascularity, Cerebellar... |
OMIM:606519 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
16Q24.3 Microdeletion Syndrome |
|
Nystagmus, Optic nerve hypoplasia, Periventricular heterotopia, Strabismus, Hypoplasia of the cor... |
ORPHA:261250 |
D-Glyceric Aciduria |
|
Microcephaly, Cerebral cortical atrophy, Optic nerve hypoplasia, Opisthotonus |
OMIM:220120 |
Episodic Ataxia, Type 4 |
|
Abnormality of ocular smooth pursuit, Gaze-evoked nystagmus, Esophoria |
OMIM:606552 |
Tatton-Brown-Rahman Syndrome |
|
Optic nerve hypoplasia |
OMIM:615879 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Spinocerebellar Ataxia 21 |
|
Nystagmus, Microsaccadic pursuit, Postural tremor, Hypermetric saccades, Strabismus, Slow saccadi... |
OMIM:607454 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Nystagmus, Retinal thinning, Absent foveal reflex, Peripapillary atrophy... |
OMIM:216900 |
Fanconi Anemia, Complementation Group I |
|
Microphthalmia, Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly |
OMIM:609053 |
Episodic Ataxia, Type 2 |
|
Dystonia, Gaze-evoked nystagmus, Saccadic smooth pursuit, Downbeat nystagmus |
OMIM:108500 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Retinal coloboma, Macular coloboma |
OMIM:107550 |
Spinocerebellar Ataxia 42 |
|
Tremor, Horizontal nystagmus, Saccadic smooth pursuit |
OMIM:616795 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
White-Sutton Syndrome |
|
Nystagmus, Optic nerve hypoplasia, Microcephaly, Cerebral atrophy, Strabismus, Hypoplasia of the ... |
OMIM:616364 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Nystagmus, Postural tremor, Truncal titubation, Hypermetric saccades, Saccadic smooth pursuit, Oc... |
OMIM:609270 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, O... |
OMIM:607196 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Nystagmus, Abnormality of retinal pigmentation, Ocular albinism, Optic n... |
ORPHA:79435 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Optic nerve hypoplasia, Microcephaly |
OMIM:222765 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Rotary nystagmus, Alternating esotropia, Microcephaly, Optic atrophy, Simplified gyral pattern, S... |
OMIM:615219 |
7Q11.23 Microduplication Syndrome |
|
Impaired smooth pursuit, Simplified gyral pattern, Strabismus, Abnormal optic disc morphology, Ce... |
ORPHA:96121 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gaze-evoked nystagmus, Postural tremor, Saccadic smooth pursuit, Strabismus, Choreoathetosis, Hea... |
ORPHA:64753 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Periventricular heterotopia, Hypoplasia of the pons, O... |
ORPHA:468631 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Primary Progressive Freezing Gait |
|
Cerebral cortical atrophy, Postural tremor, Impaired smooth pursuit |
ORPHA:75567 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Head titubation, Craniofacial dystonia, Jerky ocular pursuit movements, Esodeviation |
OMIM:619691 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Congenital nystagmus, Bilateral microphthalmos, Hypoplastic iris stroma,... |
ORPHA:2334 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Developmental And Epileptic Encephalopathy 83 |
|
Hypoplasia of the fovea, Nystagmus, Microcephaly, Hypoplasia of the corpus callosum, Cerebral cor... |
OMIM:618744 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Nystagmus, Impaired smooth pursuit, Microcephaly, Simplified gyral pattern, Sensory axonal neurop... |
OMIM:616541 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Nystagmus, Orthostatic hypotension, Peripheral axonal neuropathy, Saccadic smooth pursuit, Strabi... |
ORPHA:2822 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Nystagmus, Dystonia, Impaired smooth pursuit, Strabismus, Abnormality of ocular smooth pursuit, L... |
OMIM:616973 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Nystagmus, Depigmented fundus, Strabismus, Abnormal morphology of the ch... |
ORPHA:352731 |
Spinocerebellar Ataxia Type 42 |
|
Nystagmus, Resting tremor, Upper limb postural tremor, Gaze-evoked horizontal nystagmus, Saccadic... |
ORPHA:458803 |
2P15P16.1 Microdeletion Syndrome |
|
Facial palsy, Optic nerve hypoplasia, Microcephaly, Optic atrophy, Strabismus, Cerebellar hypoplasia |
ORPHA:261349 |
Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy |
OMIM:535000 |
Optic Atrophy 8 |
|
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... |
OMIM:616648 |
Linear Verrucous Nevus Syndrome |
|
Aplasia/Hypoplasia of the fovea, Aplasia/Hypoplasia of the corpus callosum, Strabismus, Retinopat... |
ORPHA:2611 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Renal Coloboma Syndrome |
|
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia |
ORPHA:1475 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Retina... |
OMIM:243605 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Nystagmus, Ocular albinism, Strabismus, Abnormal macular morphology |
ORPHA:54 |
Fragile X Tremor/Ataxia Syndrome |
|
Nystagmus, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Action tremor, Saccadic smo... |
OMIM:300623 |
Congenital Primary Aphakia |
|
Retinal dysplasia |
ORPHA:83461 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Nystagmus, Chronic axonal neuropathy, Peripheral axona... |
OMIM:606002 |
Fg Syndrome Type 1 |
|
Strabismus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:93932 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Nystagmus, Rieger anomaly, Strabismus, Hypoplasia of the iris, Microphth... |
OMIM:604229 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Nystagmus, Abnormality of retinal pigmentation, Strabismus, Abnormal opt... |
ORPHA:79434 |
Abetalipoproteinemia |
|
Retinopathy, Peripheral demyelination, Retinal degeneration |
OMIM:200100 |
Gerstmann-Straussler Disease |
|
Tremor, Impaired smooth pursuit |
OMIM:137440 |
Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Nystagmus, Intermittent microsaccadic pursuits |
ORPHA:98773 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Gray matter heterotopia, Hypopla... |
OMIM:603671 |
Hermansky-Pudlak Syndrome 6 |
|
Nystagmus, Ocular albinism, Absent foveal reflex, Strabismus, Macular hypoplasia |
OMIM:614075 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Strabismus, Retinal vascular malformation, C... |
ORPHA:42775 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Horizontal nystagmus, Nystagmus, Retinal detachment, Morning glory anoma... |
OMIM:612109 |
Craniosynostosis 4 |
|
Optic nerve hypoplasia |
OMIM:600775 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus... |
OMIM:206900 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Microcephaly, Strabismus, Abnormal optic disc morphology, R... |
ORPHA:508498 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Pancreatic And Cerebellar Agenesis |
|
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Cereb... |
OMIM:609069 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia, Intention tremor |
OMIM:620029 |
Hydranencephaly |
|
Optic nerve hypoplasia, Chorioretinal atrophy, Opisthotonus, Primary microcephaly, Cerebral corti... |
ORPHA:2177 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Aniridia 2 |
|
Optic atrophy |
OMIM:617141 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Horizontal nystagmus, Ocular albinism |
OMIM:614073 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Horizontal nystagmus, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hypopla... |
ORPHA:495875 |
Familial Benign Copper Deficiency |
|
Aplasia/Hypoplasia of the fovea |
ORPHA:1551 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Retinopathy |
OMIM:617562 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Nystagmus, Horizontal nystagmus, Ocular albinism, Strabismus |
OMIM:614074 |
Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the corpus call... |
OMIM:605627 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Optic nerve hypoplasia, Intention tremor |
ORPHA:221139 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Nystagmus, Optic nerve hypoplasia, Dandy-Walker malformation |
OMIM:617506 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Strabismus, Macular hypoplasia, Microcephaly |
OMIM:613792 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI |
OMIM:616781 |
Joubert Syndrome 33 |
|
Cone/cone-rod dystrophy, Molar tooth sign on MRI |
OMIM:617767 |
Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Agenesis of corpus callosum, Optic atrophy |
ORPHA:3301 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Retinopathy |
OMIM:614970 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Hermansky-Pudlak Syndrome 11 |
|
Strabismus, Nystagmus, Hypoplasia of the fovea, Ocular albinism |
OMIM:619172 |
Holoprosencephaly 9 |
|
Anophthalmia, Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Partial agenesis ... |
OMIM:610829 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy |
OMIM:616811 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Agenesis of corpus callosum, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Olivopont... |
ORPHA:457284 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Cerebral atrophy, Macrogyria, Cerebellar hypoplasia, Hypoplasia of the co... |
OMIM:602535 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia, Microcephaly |
OMIM:301043 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia, Microcephaly |
OMIM:619321 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... |
ORPHA:320401 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Abnormal optic nerve morphology, H... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Microcephaly, Gray matter heterotopia, Abnormal optic nerve morphology, H... |
ORPHA:352665 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Strabismus, Agenesis of pineal gland, Optic disc coloboma, Optic nerve hypoplasia |
ORPHA:536471 |
Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia |
ORPHA:95496 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Nystagmus, Horizontal nystagmus, Optic disc pallor, Ocular albinism, Pen... |
OMIM:614077 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Retinal dystrophy |
OMIM:614465 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon |
ORPHA:59315 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Nystagmus, Ocular albinism, Abnormal optic nerve morphology |
ORPHA:79431 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Strabismus, Chorioretinal coloboma, Mi... |
ORPHA:141099 |
Wolfram Syndrome 2 |
|
Neurogenic bladder, Optic atrophy, Optic neuropathy |
OMIM:604928 |
Norrie Disease |
|
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia |
OMIM:310600 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Nystagmus, Ocular albinism, Strabismus, Exotropia |
OMIM:203100 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Nystagmus, Optic atrophy, Strabismus, Yellow/white lesions of the retina... |
ORPHA:93400 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia |
OMIM:617319 |
Knobloch Syndrome 1 |
|
Nystagmus, Horizontal nystagmus, Retinal detachment, Gaze-evoked nystagmus, Optic disc pallor, Mi... |
OMIM:267750 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Nystagmus, Optic nerve hypoplasia, Optic atrophy, Simplified gyral pattern, Strabismus, Cerebella... |
ORPHA:500150 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Bilateral microphthalmos, Strabismus, Retinal coloboma, Secondary microce... |
ORPHA:508488 |
Joubert Syndrome 6 |
|
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Chorioretinal coloboma, Mola... |
OMIM:610688 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Nystagmus, Abnormality of retinal pigmentation, Macular hypopigmentation... |
ORPHA:79432 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:226307 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Baller-Gerold Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Strabismus, Polymicrogyria, Agenesis of corpus callosum |
OMIM:218600 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Optic nerve hypoplasia |
OMIM:620025 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... |
OMIM:601152 |
Chediak-Higashi Syndrome |
|
Nystagmus, Decreased nerve conduction velocity, Tremor, Ocular albinism, Strabismus, Macular hypo... |
OMIM:214500 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nystagmus, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Dystonia |
OMIM:620330 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Abnormal retinal morphology |
OMIM:614615 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials |
OMIM:256600 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:2971 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation |
ORPHA:96 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology |
ORPHA:280195 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials |
OMIM:609304 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:1933 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:95494 |
Vici Syndrome |
|
Nystagmus, Cerebellar vermis hypoplasia, Macular atrophy, Microcephaly, Ocular albinism, Gray mat... |
OMIM:242840 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Microcephaly, Retinal vascular proliferation, Optic ... |
OMIM:308300 |
Jacobsen Syndrome |
|
Microcephaly, Optic atrophy, Strabismus, Macular hypoplasia, Chorioretinal coloboma, Microphthalmia |
OMIM:147791 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... |
OMIM:601455 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Mepan Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:508093 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visual evok... |
ORPHA:485421 |
Mohr-Tranebjaerg Syndrome |
|
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... |
ORPHA:52368 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Nystagmus, Microcephaly, Cerebral atrophy, Strabismus, Macular hypoplasia |
ORPHA:1675 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum |
ORPHA:264200 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Xq12-Q13.3 Duplication Syndrome |
|
Abnormality of visual evoked potentials, Optic disc pallor |
ORPHA:314389 |
Friedreich Ataxia |
|
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:229300 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:702 |
Infantile Neuroaxonal Dystrophy |
|
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... |
ORPHA:35069 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... |
ORPHA:168491 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:616875 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... |
OMIM:231550 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Retinal dysplasia |
OMIM:601374 |
Micro Syndrome |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... |
ORPHA:2510 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Alternating esotropia, Cerebellar vermis hypoplasia, Microcephaly, Limb tr... |
OMIM:619841 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ... |
ORPHA:206443 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials |
OMIM:614457 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormality of visual evoked potentials, Optic atrophy |
ORPHA:480898 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal pons morphology, Abnormal medulla oblong... |
ORPHA:206448 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Cerebral atrophy, Atrophy/Degeneration affectin... |
ORPHA:356961 |
Mend Syndrome |
|
Macular hypoplasia, Dandy-Walker malformation, Esotropia |
OMIM:300960 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
Cln5 Disease |
|
Abnormality of visual evoked potentials |
ORPHA:228360 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
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Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials |
ORPHA:309263 |
Ruvalcaba Syndrome |
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Abnormality of visual evoked potentials |
ORPHA:3121 |
Metachromatic Leukodystrophy, Adult Form |
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Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... |
ORPHA:309271 |
Mogs-Cdg |
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Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy |
ORPHA:79330 |
Japanese Encephalitis |
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Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Ab... |
ORPHA:79139 |
Cerebrotendinous Xanthomatosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
Cockayne Syndrome A |
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Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Retina... |
OMIM:216400 |
Duplication Of The Pituitary Gland |
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Congenital stationary night blindness, Abnormal midbrain morphology |
ORPHA:314621 |
Hermansky-Pudlak Syndrome |
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Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism |
ORPHA:79430 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial palsy, Abnormal brain... |
ORPHA:68 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Nystagmus, Remnants of the hyaloid vascular system, Microcephaly, Lens c... |
OMIM:619539 |
Cerebellar-Facial-Dental Syndrome |
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Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology |
ORPHA:444072 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Abnormality of visual evoked potentials, Facial palsy |
ORPHA:258 |
Cockayne Syndrome B |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Pigmenta... |
OMIM:133540 |
Metachromatic Leukodystrophy |
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Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:512 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormality of visual evoked potentials, Optic nerve compression |
ORPHA:667 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Abnormality of visual evoked potentials |
OMIM:203700 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Abnormal midbrain morphology, Abnormal autonomic nervous system physiology |
ORPHA:293987 |