Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nuclear receptor subfamily 2, group E, member 1
Synonyms:
Nr2e1,  Tlx,  Mtll,  tailless

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nr2e1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nr2e1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Color vision defect, Visual impairment, Bull's eye macu... OMIM:603649
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Reduced visual acuity, Central scotoma, Retinal pigment... OMIM:608051
Central Areolar Choroidal Dystrophy
Macular atrophy, Nyctalopia, Visual loss, Perifoveal ring of hyperautofluorescence, Reduced visua... ORPHA:75377
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Progressive visual loss, Macular degeneration, Drusen OMIM:615439
Late-Onset Retinal Degeneration
Visual loss, Scotoma, Retinal degeneration, Blindness, Adult-onset night blindness, Sub-RPE depos... OMIM:605670
Stargardt Disease 3
Macular atrophy, Macular flecks, Reduced visual acuity, Visual impairment, Macular dystrophy OMIM:600110
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration, Visual impairment OMIM:618513
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Visual impairment, Retinal dystrophy OMIM:126600
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization, Reduced visual acuity OMIM:617111
Macular Dystrophy, Retinal, 3
Reduced visual acuity, Central scotoma, Retinal pigment epithelial atrophy, Color vision defect, ... OMIM:608850
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Visual impairment, Macular... OMIM:153700
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Central scotoma, Visual impairment, Bull's eye maculopathy, Optic disc pal... OMIM:616170
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Bothnia Retinal Dystrophy
Nyctalopia, Pigmentary retinopathy, Retinitis, Central scotoma, Visual field defect, Retinal pigm... ORPHA:85128
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Paracentral scotoma, Peripheral retinal degeneration, Visual impairment,... OMIM:609021
Retinitis Pigmentosa 11
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Perifoveal ring of hyperaut... OMIM:600138
Retinitis Pigmentosa 80
Macular atrophy, Blindness, Progressive visual loss OMIM:617781
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Metamorphopsia, Visual field defect, Color vision defect, Choroider... ORPHA:1243
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Hyperintensity of cerebral white matter on MRI, Dementia OMIM:618564
Macular Dystrophy, Vitelliform, 4
Vitelliform-like macular lesions, Reduced visual acuity, Moderately reduced visual acuity, Drusen... OMIM:616151
Ceroid Lipofuscinosis, Neuronal, 7
Visual loss, Pigmentary retinopathy, Cerebral atrophy, Blindness, Optic atrophy, Retinopathy OMIM:610951
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Retinal Cone Dystrophy 1
Retinal degeneration, Cone/cone-rod dystrophy, Color vision defect, Progressive visual loss, Phot... OMIM:180020
Retinitis Pigmentosa Inversa With Deafness
Blindness, Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Microcephaly, Bone spicule pigmentatio... OMIM:618889
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Retinitis Pigmentosa 3
Rod-cone dystrophy, Reduced visual acuity OMIM:300029
Ceroid Lipofuscinosis, Neuronal, 6
Progressive visual loss, Retinal degeneration OMIM:601780
Macular Degeneration, X-Linked Atrophic
Macular degeneration, Reduced visual acuity OMIM:300834
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Nyctalopia, Pigmentary retinopathy, Reduced visual acuit... OMIM:609913
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Retinal degeneration, Reduced visual acuity OMIM:617879
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retina... OMIM:180210
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Dystrophy, Vitelliform, 5
Vitelliform-like macular lesions, Reduced visual acuity, Central scotoma, Moderately reduced visu... OMIM:616152
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Myopia, Spina bifida, Retinal degeneration OMIM:311000
Ceroid Lipofuscinosis, Neuronal, 2
Progressive visual loss, Cerebral atrophy, Retinal degeneration OMIM:204500
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Blindness, Rod-cone dystrophy OMIM:612165
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Retinitis Pigmentosa 30
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Visual im... OMIM:607921
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Microcephaly, Optic atrophy, Severely reduced visual acuity OMIM:309555
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Rod-cone dystrophy, Severely reduced visual acuity ORPHA:3011
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Nyctalopia, Chorioretinal atrophy, Blindnes... OMIM:613750
Retinitis Pigmentosa 13
Nyctalopia, Cystoid macular edema, Retinal degeneration, Hypopigmentation of the fundus, Constric... OMIM:600059
Retinitis Pigmentosa 38
Macular atrophy, Nyctalopia, Peripheral retinal atrophy, Progressive visual loss, Rod-cone dystro... OMIM:613862
Retinitis Pigmentosa 33
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Visual impa... OMIM:610359
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Visual field defect, Retinal pigment epithelial atrophy, Ro... OMIM:609923
Spinocerebellar Ataxia, Autosomal Recessive 12
Microcephaly, Optic atrophy, Retinal degeneration OMIM:614322
Senior-Loken Syndrome 6
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:610189
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone/cone-rod dystrophy, Color vision defect, Photophobia, Macular degener... OMIM:600977
Retinitis Pigmentosa 70
Nyctalopia, Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Persistent Placoid Maculopathy
Abnormal macular morphology, Metamorphopsia, Reduced visual acuity, Scintillating scotoma, Retina... ORPHA:97341
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Visual loss, Visual field defect, Retinal pigment epithelial atrophy... OMIM:143200
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Blindness, Optic atrophy, Progressive visual loss, Second... OMIM:256730
Leber Congenital Amaurosis 4
Macular atrophy, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/co... OMIM:604393
Developmental And Epileptic Encephalopathy 28
Hypoplasia of the corpus callosum, Cerebral atrophy, Retinal degeneration, Microcephaly, Optic at... OMIM:616211
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy, Optic disc pallor OMIM:613582
Stargardt Disease
Nyctalopia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial mottling, Retinal ... ORPHA:827
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced visual acuity, Macular dystrophy OMIM:601553
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Nyctalopia, Reduced visual acuity, Attenuation of r... OMIM:614500
Chromosome Xp11.3 Deletion Syndrome
Nyctalopia, Blindness, Visual impairment, Microcephaly, Rod-cone dystrophy OMIM:300578
Cone-Rod Dystrophy 13
Reduced visual acuity, Cone/cone-rod dystrophy, Color vision defect, Visual impairment, Photophob... OMIM:608194
Night Blindness, Congenital Stationary, Type 1G
Blindness, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Retinitis Pigmentosa 76
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Cystoid macular edema... OMIM:617123
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Blindness, Abnormal retinal vascular ... ORPHA:90050
Cone-Rod Dystrophy, X-Linked, 1
Nyctalopia, Reduced visual acuity, Retinal pigment epithelial mottling, Retinal pigment epithelia... OMIM:304020
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy OMIM:136900
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Reduced visual acuity, Central scotoma, Central retinal vessel vascula... OMIM:619382
Macular Dystrophy, Retinal, 1, North Carolina Type
Reduced visual acuity, Central scotoma, Peripheral retinal atrophy, Abnormality of macular pigmen... OMIM:136550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Chorioretinal dysplasia, Visual impairment, Reduced visual acuity OMIM:616335
Neuropathy, Ataxia, And Retinitis Pigmentosa
Blindness, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:300071
Retinitis Pigmentosa 19
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal pigment epitheli... OMIM:601718
Cone-Rod Dystrophy 11
Macular atrophy, Photophobia, Cone/cone-rod dystrophy, Slow decrease in visual acuity, Bull's eye... OMIM:610381
Retinitis Pigmentosa 47
Nyctalopia, Pigmentary retinopathy, Chorioretinal atrophy, Visual impairment, Rod-cone dystrophy OMIM:613758
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Metamorphopsia, Reduced visual acuity, Choroid... OMIM:608161
Optic Atrophy 5
Central scotoma, Optic atrophy, Slow decrease in visual acuity, Tritanomaly OMIM:610708
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Reduced visual acuity, Attenuation of retinal ... ORPHA:49382
Macular Dystrophy, Patterned, 1
Nyctalopia, Pattern dystrophy of the retina, Dark choroid, Metamorphopsia, Choroidal neovasculari... OMIM:169150
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Ceroid Lipofuscinosis, Neuronal, 3
Cerebral atrophy, Blindness, Progressive visual loss, Optic atrophy, Macular degeneration, Rod-co... OMIM:204200
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Microcephaly, Polymicrogyria, Cortical dysplasia OMIM:615771
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy OMIM:615725
Usher Syndrome, Type Iv
Nyctalopia, Retinal atrophy, Retinal degeneration, Ring scotoma, Constriction of peripheral visua... OMIM:618144
Retinitis Pigmentosa 50
Nyctalopia, Retinal flecks, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal ... OMIM:613194
Retinitis Pigmentosa 63
Blurred vision, Nyctalopia, Rod-cone dystrophy, Optic disc pallor OMIM:614494
Seizures, Cortical Blindness, And Microcephaly Syndrome
Hypoplasia of the corpus callosum, Optic atrophy, Microcephaly, Cerebral visual impairment OMIM:616632
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Reduced visual acuity, Visual field defect, Visual impairment, ... OMIM:153840
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Reduced visual acuity, Peripapillary atrophy, Abnormal flash visual evoked ... OMIM:618195
Retinitis Pigmentosa 37
Nyctalopia, Cystoid macular degeneration, Pigmentary retinopathy, Tritanomaly, Red-green dyschrom... OMIM:611131
Retinitis Pigmentosa 4
Nyctalopia, Pigmentary retinopathy, Visual field defect, Blindness, Rod-cone dystrophy OMIM:613731
Retinitis Pigmentosa 54
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Fundus atrophy, Bone spicule... OMIM:613428
Retinitis Pigmentosa 90
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Attenuation of retina... OMIM:619007
Mental Retardation, Autosomal Dominant 33
Amblyopia, Microcephaly, Chorioretinal degeneration OMIM:616311
Ceroid Lipofuscinosis, Neuronal, 9
Progressive visual loss, Cerebral atrophy, Rod-cone dystrophy, Optic atrophy OMIM:609055
Microphthalmia, Isolated 5
Nyctalopia, Optic disc drusen, Rod-cone dystrophy, Reduced visual acuity, Retinal pigment epithel... OMIM:611040
Retinitis Pigmentosa 61
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Bone spicule pigmentation of... OMIM:614180
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Agenesis of corpus callosum ORPHA:85334
Cone-Rod Dystrophy 15
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Color visio... OMIM:613660
Choroideremia
Nyctalopia, Abnormality of retinal pigmentation, Abnormality of vision, Myopia, Progressive visua... ORPHA:180
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Nyctalopia, Cystoid macular degeneration, Retinal degeneration, Constriction of ... OMIM:267760
Retinitis Pigmentosa 17
Nyctalopia, Color vision defect, Photophobia, Bone spicule pigmentation of the retina, Rod-cone d... OMIM:600852
Retinitis Pigmentosa 78
Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid macular edema, Photopsia, Optic d... OMIM:617433
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Scotoma, Retinal dystrophy, Color vision defect, Visual impairment OMIM:607476
Retinitis Pigmentosa 35
Cone/cone-rod dystrophy, Blindness, Nyctalopia, Rod-cone dystrophy OMIM:610282
Cone-Rod Dystrophy 21
Macular atrophy, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Photophobia OMIM:616502
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Reduced visual acuity, Peripheral retinal atrophy, Iris coloboma, Retinal d... OMIM:615147
Retinitis Pigmentosa 88
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cystoid macular edema, B... OMIM:618826
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Retinal pigment epithelial atrophy, Retinal flecks, Reduced visual acuity OMIM:611809
Cone-Rod Dystrophy 12
Nyctalopia, Reduced visual acuity, Central scotoma, Cone/cone-rod dystrophy, Color vision defect,... OMIM:612657
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal pigment epithelial atrophy, Myopia, Retinal dystrophy, Retinal det... OMIM:616188
Retinitis Pigmentosa 62
Nyctalopia, Visual field defect, Rod-cone dystrophy, Optic disc pallor OMIM:614181
Retinitis Pigmentosa 28
Nyctalopia, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod... OMIM:606068
Nanophthalmos 4
Optic disc drusen, Visual impairment, Reduced visual acuity OMIM:615972
Cone Dystrophy 3
Macular atrophy, Reduced visual acuity, Cone/cone-rod dystrophy, Progressive visual loss, Photoph... OMIM:602093
Cone Rod Dystrophy
Nyctalopia, Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia ORPHA:1872
Achromatopsia 7
Macular atrophy, Absent foveal reflex, Reduced visual acuity, Central scotoma, Achromatopsia, Pho... OMIM:616517
Retinitis Pigmentosa 7
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, ... OMIM:608133
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Microcephaly, Optic atrophy ORPHA:2787
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
Retinitis Pigmentosa 20
Nyctalopia, Attenuation of retinal blood vessels, Severely reduced visual acuity, Visual impairme... OMIM:613794
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Nyctalopia, Central scotoma, Retinal dystrophy, Photophobia, Optic disc pallor OMIM:616079
Retinoschisis Of Fovea
Nyctalopia, Visual loss, Foveoschisis, Mildly reduced visual acuity, Hypermetropia, Rod-cone dyst... OMIM:268080
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204100
Retinal Cone Dystrophy 3A
Nyctalopia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Photophobia, Cone dy... OMIM:610024
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Reduced visual acuity, Visual field defect, Cerebral visual impairment, Visual impairment, Optic ... OMIM:615722
Retinitis Pigmentosa 9
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Constriction of peripheral ... OMIM:180104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Myopia, Blindness, Polymicrogyria, Optic nerve hypoplasia, Retinal detachm... OMIM:615181
Leber Congenital Amaurosis 15
Nyctalopia, Pigmentary retinopathy, Myopia, Retinal degeneration, Color vision defect, Constricti... OMIM:613843
Congenital Stationary Night Blindness
Nyctalopia, Abnormality of retinal pigmentation, Congenital stationary night blindness with norma... ORPHA:215
Cone-Rod Dystrophy 2
Nyctalopia, Metamorphopsia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial at... OMIM:120970
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Retinal degeneration, Decreased response to growth hormone stimuation test OMIM:225755
Optic Atrophy 3, Autosomal Dominant
Scotoma, Optic atrophy, Optic disc pallor, Reduced visual acuity OMIM:165300
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Progressive night blindness, Retinal degeneration, High myopia, Paracentra... OMIM:210370
Narp Syndrome
Retinal pigment epithelial mottling, Abnormal visual field test, Cerebral cortical atrophy, Blind... ORPHA:644
Mucolipidosis Iv
Photophobia, Retinal degeneration, Cerebral dysmyelination, Dysplastic corpus callosum, Visual im... OMIM:252650
Retinitis Pigmentosa 18
Nyctalopia, Scotoma, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... OMIM:601414
Retinitis Pigmentosa 79
Macular atrophy, Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Phot... OMIM:617460
Ceroid Lipofuscinosis, Neuronal, 10
Visual loss, Retinal atrophy, Cerebral atrophy, Sensory axonal neuropathy, Microcephaly, Rod-cone... OMIM:610127
Choroideremia
Nyctalopia, Chorioretinal atrophy, Chorioretinal degeneration, Constriction of peripheral visual ... OMIM:303100
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Tritanopia
Photophobia, Reduced visual acuity, Abnormal retinal morphology, Tritanomaly, Color vision test a... ORPHA:88629
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Visual impairment, Retinal dystrophy OMIM:610156
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Vis... ORPHA:1852
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Retinitis Pigmentosa 85
Rod-cone dystrophy, Progressive night blindness, Reduced visual acuity OMIM:618345
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616394
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Reduced visual acuity, Retinal exudate, Retinal detach... OMIM:605750
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Reduced visual acuity, Central scotoma, Myopia, Cone/cone-rod dystrophy, Co... OMIM:300476
Leber Congenital Amaurosis 14
Nyctalopia, Reduced visual acuity, Congenital blindness, Retinal dystrophy, Photophobia, Rod-cone... OMIM:613341
Retinitis Pigmentosa 2
Nyctalopia, Pigmentary retinopathy, Myopia, Chorioretinal degeneration, Constriction of periphera... OMIM:312600
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy, Abnormal periventricular white matter morphology, Visual impairment OMIM:616370
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Visual impairment, Simplified gyral pattern, Microcephaly, Opt... OMIM:616171
Retinitis Pigmentosa 73
Nyctalopia, Constriction of peripheral visual field, Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinal Capillary Malformation
Retinal capillary hemangioma, Reduced visual acuity, Myopia, Epiretinal membrane, Blurred vision,... ORPHA:71213
Irvan Syndrome
Tractional retinal detachment, Reduced visual acuity, Blurred vision, Vitreous floaters, Retinal ... ORPHA:209943
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Visual ... ORPHA:179
Cone Dystrophy 4
Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment, Photophobia OMIM:613093
Jalili Syndrome
Nyctalopia, Cone/cone-rod dystrophy, Monochromacy, Photophobia, Optic disc pallor OMIM:217080
Oliver-Mcfarlane Syndrome
Retinal degeneration, Peripheral axonal neuropathy, Pigmentary retinopathy, Decreased response to... OMIM:275400
Retinitis Pigmentosa 12
Nyctalopia, Rod-cone dystrophy OMIM:600105
Optic Atrophy 12
Abnormal Ishihara plate test, Reduced visual acuity, Dyschromatopsia, Photophobia, Optic atrophy,... OMIM:618977
Leber Congenital Amaurosis 9
Nyctalopia, Attenuation of retinal blood vessels, Macular coloboma, Hypermetropia, Photophobia, O... OMIM:608553
Usher Syndrome, Type Iiia
Nyctalopia, Visual field defect, Rod-cone dystrophy, Reduced visual acuity OMIM:276902
Bardet-Biedl Syndrome 21
Retinal atrophy, Myopia, Retinal thinning, Cone/cone-rod dystrophy, Blindness, Constriction of pe... OMIM:617406
Optic Atrophy 9
Reduced visual acuity, Paracentral scotoma, Visual impairment, Red-green dyschromatopsia, Optic a... OMIM:616289
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Reduced visual acuity, Retinal exudat... OMIM:613310
Central Retinal Vein Occlusion
Visual loss, Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Ret... ORPHA:411527
Retinitis Pigmentosa 1
Nyctalopia, Myopia, Constriction of peripheral visual field, Bone spicule pigmentation of the ret... OMIM:180100
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Progre... OMIM:603075
Developmental And Epileptic Encephalopathy 36
Poor eye contact, Flexion contracture, Cerebral atrophy, Microcephaly, Optic atrophy, Hydrocephalus OMIM:300884
Optic Pathway Glioma
Visual loss, Neurofibromas, Reduced visual acuity, Visual field defect, Papilledema, Blindness, O... ORPHA:2086
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Myopia, Visual impairment, Congenital stationary night blindness OMIM:614565
Retinitis Pigmentosa 6
Nyctalopia, Pigmentary retinopathy, Chorioretinal degeneration, Constriction of peripheral visual... OMIM:312612
Retinitis Pigmentosa 60
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:613983
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia, Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Visual impairment, Optic atrophy, Abnormality of ... ORPHA:141
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Blue Cone Monochromacy
Blue cone monochromacy, Reduced visual acuity, Myopia, Abnormality of macular pigmentation, Visua... OMIM:303700
Retinal Cone Dystrophy 3B
Macular atrophy, Nyctalopia, Scotoma, Myopia, Cone/cone-rod dystrophy, Photophobia OMIM:610356
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204000
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Oguchi Disease
Diplopia, Myopia, Mizuo phenomenon, Visual impairment, Congenital stationary night blindness, Mac... ORPHA:75382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Hydrocephalus, Coloboma, Reduced visual acuity, Retinal degeneration, Agyr... OMIM:615249
Spastic Paraplegia 55, Autosomal Recessive
Reduced visual acuity, Hypoplasia of the corpus callosum, Central scotoma, Onion bulb formation, ... OMIM:615035
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Cavitary Optic Disc Anomalies
Nyctalopia, Peripapillary atrophy, Visual field defect, Reduced visual acuity OMIM:611543
Usher Syndrome, Type 1M
Nyctalopia, Drusen, Optic disc pallor OMIM:618632
Optic Atrophy 1
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Tritanomaly, Visual impairment, Red-... OMIM:165500
Retinitis Pigmentosa
Nyctalopia, Constriction of peripheral visual field, Abnormality of fundus pigmentation, Rod-cone... OMIM:268000
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Visual loss, Optic atrophy, Retinal degeneration OMIM:300438
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Myopia, Visual impairment, Chorioretinal dystrophy ORPHA:75373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Hydrocephalus, Anencephaly, Retinal dysplasia, Blindness, Optic nerve dysp... OMIM:615287
Krabbe Disease
Peripheral demyelination, Blindness, Optic atrophy, Decreased nerve conduction velocity, Diffuse ... OMIM:245200
Fundus Albipunctatus
Nyctalopia, Fundus albipunctatus, Retinal flecks OMIM:136880
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Reduced visua... OMIM:601813
Ceroid Lipofuscinosis, Neuronal, 5
Progressive visual loss, Retinal degeneration OMIM:256731
Spastic Paraplegia 74, Autosomal Recessive
Visual field defect, Optic atrophy, Peripheral axonal neuropathy, Visual impairment OMIM:616451
Retinitis Punctata Albescens
Macular atrophy, Nyctalopia, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Atten... ORPHA:52427
Leber Congenital Amaurosis 16
Nyctalopia, Reduced visual acuity, Visual impairment, Photophobia, Optic disc pallor OMIM:614186
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia, Attenuation of retinal blood vessels, Abnormality of the optic nerve, Absent retinal ... ORPHA:436274
Retinitis Pigmentosa 41
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Severely reduced visual... OMIM:612095
Idiopathic Uveal Effusion Syndrome
Retinal fold, Metamorphopsia, Reduced visual acuity, Visual field defect, Blurred vision, Subreti... ORPHA:209956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Optic atrophy, Type II lissencephaly, Hydrocephalus OMIM:613154
Glaucoma 1, Open Angle, P
Glaucomatous visual field defect, Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, High myopia, Visual impa... OMIM:613464
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Poretti-Boltshauser Syndrome
Retinal atrophy, Abnormal periventricular white matter morphology, Myopia, Retinal thinning, Reti... OMIM:615960
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Visual loss, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Optic atrophy OMIM:611726
Cone-Rod Dystrophy 17
Central scotoma, Cone/cone-rod dystrophy, Visual impairment, Photophobia, Optic disc pallor OMIM:615163
Methylmalonic Acidemia With Homocystinuria
Amblyopia, Microcephaly, Retinopathy, Hydrocephalus ORPHA:26
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Hypoplasia of the corpus callosum, Macular degeneration, Agenesis of corpus callosum OMIM:612948
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Nyctalopia, Cone/cone-rod dystrophy, Abnormality of the opti... OMIM:605549
Spastic Paraplegia 11, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Retinal dege... OMIM:604360
Retinal Cone Dystrophy 4
Reduced visual acuity, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy, Constriction... OMIM:610478
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Myopia, Visual impairment, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Cone-Rod Dystrophy 20
Reduced visual acuity, Central scotoma, Cone/cone-rod dystrophy, Color vision defect, Constrictio... OMIM:615973
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Choroidal neovascularization, Peripheral axonal neuropathy, Decreased nerve conduction velocity, ... OMIM:608895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia, Type II lissencephaly, Hydrocephalus OMIM:614830
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Myopia, Visual impairment ORPHA:1574
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Pachygyria, Chorioretinal dysplasia, Cerebral atrophy, Retin... OMIM:251270
Spastic Paraplegia 81, Autosomal Recessive
Reduced visual acuity, Cerebral visual impairment, Periventricular white matter hyperdensities, M... OMIM:618768
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Visual impairment, Retinal dystrophy OMIM:614706
Retinitis Pigmentosa 46
Abnormality of retinal pigmentation, Attenuation of retinal blood vessels, Constriction of periph... OMIM:612572
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Dyschromatopsia, Myopia, Peripheral retinal degeneration, Progressive vi... OMIM:264420
Retinitis Pigmentosa 86
Nyctalopia, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retina... OMIM:618613
Retinitis Pigmentosa 49
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Peripheral visual field ... OMIM:613756
Retinitis Pigmentosa 77
Nyctalopia, Retinal atrophy, Reduced visual acuity, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Spastic Paraplegia 82, Autosomal Recessive
Cerebral atrophy, Optic atrophy, Reduced visual acuity OMIM:618770
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Visual field defect, Retinal pigment epithelial mottling, Vitritis,... ORPHA:284454
Severe Canavan Disease
Blindness, Megalencephaly, Cerebral white matter atrophy, Optic atrophy ORPHA:314911
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Reduced visual acuity, Vitreous hemorrhage, ... OMIM:133780
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Progressive night blindness, Blindness, Abnormal retinal vas... ORPHA:791
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Myopia, Coloboma, Reduced visual acuity OMIM:602499
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 10
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Geographic atrophy, B... OMIM:180105
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Visual loss, Cone dystrophy, Retinal detachment OMIM:304030
Retinitis Pigmentosa 58
Nyctalopia, Attenuation of retinal blood vessels, Severely reduced visual acuity, Peripheral visu... OMIM:613617
Chromosome Xq21 Deletion Syndrome
Nyctalopia, Chorioretinal atrophy, Chorioretinal degeneration, Constriction of peripheral visual ... OMIM:303110
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Visual impairment ORPHA:2246
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness, Retinal detachment ORPHA:436182
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Visual loss, Optic atrophy, Progressive visual loss OMIM:601338
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma, Type II lissencephaly, Hydrocephalus ORPHA:324416
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Reduced visual acuity, Central scotoma, Color vision defect, Photophobia, Blind-spot enlargment, ... OMIM:616732
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Retinal nonattachment, Abnormality of vision, Visual field defe... ORPHA:99000
Glaucoma-Related Pigment Dispersion Syndrome
Optic atrophy, Myopia OMIM:600510
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Blindness, Vitreoretin... OMIM:193235
Retinitis Pigmentosa 83
Asteroid hyalosis, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cysto... OMIM:618173
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Chorioretinal atrophy, Color vision defect, Visual impairmen... ORPHA:364055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Type II lissencephaly OMIM:615041
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Reduced visual acuity, Retinal pigment epithelial mottling, Central retinal vessel vascular tortu... ORPHA:506353
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma, Visual impairment OMIM:613703
Norrie Disease
Retinal dysplasia, Blindness, Retinal detachment, Optic atrophy, Retinal fold OMIM:310600
Spinocerebellar Ataxia 7
Progressive visual loss, Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Retinitis Pigmentosa 25
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Constriction of peripher... OMIM:602772
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Myopia, Posterior vitreous detachment, Retina... OMIM:616468
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Myopia, Progressive night blindness, Blindnes... ORPHA:414
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Nyctalopia, Pigmentary retinopathy, Abnormality of chorioretinal pi... OMIM:193220
Retinitis Pigmentosa 14
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Retinal arteriolar co... OMIM:600132
Retinitis Pigmentosa 56
Nyctalopia, Pigmentary retinopathy, Reduced visual acuity, Attenuation of retinal blood vessels, ... OMIM:613581
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Visual loss, Focal T2 hyperintense thalamic lesion, P... ORPHA:79264
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Bardet-Biedl Syndrome 5
Reduced visual acuity, Rod-cone dystrophy, Macular dystrophy OMIM:615983
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Delayed social development, Impaired social interactions, Typ... ORPHA:300570
Fried Syndrome
Abnormality of the optic nerve, Cerebral calcification, Aggressive behavior, Hydrocephalus ORPHA:85335
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Reduced visual acuity, Myopia, Visual impairment, Microcephaly OMIM:268050
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Blindness, Optic nerve hypoplasia, Simplified gyral pattern, Microcephaly OMIM:617914
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Optic Atrophy 6
Red-green dyschromatopsia, Photophobia, Optic atrophy, Visual impairment OMIM:258500
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal dystrophy, Retinal detachment OMIM:212550
Retinitis Pigmentosa 43
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field... OMIM:613810
Atypical Pantothenate Kinase-Associated Neurodegeneration
Blindness, Optic atrophy, Retinopathy ORPHA:216873
Spastic Paraplegia 15, Autosomal Recessive
Reduced visual acuity, Hypoplasia of the corpus callosum, Retinal degeneration, Peripheral axonal... OMIM:270700
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Visual loss, Blindness, Lens subluxation, Retinal detachment ORPHA:171844
Atypical Teratoid Rhabdoid Tumor
Apathy, Irritability, Hydrocephalus, Cerebral calcification ORPHA:99966
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Hypoplasia of the corpus callosum, Cerebra... OMIM:619260
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Combined Oxidative Phosphorylation Deficiency 37
Secondary microcephaly, Optic atrophy, Retinal degeneration, Visual impairment OMIM:618329
Retinitis Pigmentosa 45
Nyctalopia, Peripheral visual field loss, Bone spicule pigmentation of the retina, Macular degene... OMIM:613767
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Constriction of peripheral visual field, Visual impairment,... OMIM:608380
Retinitis Pigmentosa 66
Nyctalopia, Reduced visual acuity, Central scotoma, Constriction of peripheral visual field, Visu... OMIM:615233
Neovascular Glaucoma
Visual acuity test abnormality, Retinal vein occlusion, Abnormal posterior eye segment morphology... ORPHA:94058
Methanol Poisoning
Basal ganglia necrosis, Bilateral basal ganglia lesions, Abnormal caudate nucleus morphology, Abn... ORPHA:31825
Foveal Hypoplasia 2
Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting, Visual impairment, Hypop... OMIM:609218
Leukoencephalopathy With Vanishing White Matter
Gliosis, Blindness, Cessation of head growth, Leukoencephalopathy, Optic atrophy OMIM:603896
Sjogren-Larsson Syndrome
Photophobia, Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Hydrocephalus, Coloboma, Myopia, Blind... ORPHA:370959
Hypotrichosis With Juvenile Macular Degeneration
Blindness, Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Diprosopus
Abnormality of vision, Abnormality of retinal pigmentation, Anencephaly ORPHA:1681
Early-Onset X-Linked Optic Atrophy
Reduced visual acuity, Central scotoma, Color vision defect, Progressive visual loss, Decreased n... ORPHA:98890
Combined Oxidative Phosphorylation Deficiency 15
Reduced visual acuity, Abnormal cerebral white matter morphology, Visual impairment, Microcephaly... OMIM:614947
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinitis Pigmentosa 72
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Photophobia, Peripapi... OMIM:616469
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity, Abnormal foveal morphology on macular OCT, Abnormal fundus mo... ORPHA:370097
Cone-Rod Dystrophy 3
Visual loss, Pigmentary retinopathy, Attenuation of retinal blood vessels, Central scotoma, Cone/... OMIM:604116
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Åland Islands Eye Disease
Reduced visual acuity, Myopia, Difficulty adjusting from light to dark, Hypopigmentation of the f... ORPHA:178333
Optic Atrophy 7 With Or Without Auditory Neuropathy
Reduced visual acuity, Central scotoma, Dyschromatopsia, Constriction of peripheral visual field,... OMIM:612989
Cone-Rod Dystrophy 10
Nyctalopia, Cone/cone-rod dystrophy, Peripheral visual field loss, Progressive visual loss, Photo... OMIM:610283
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Abnormal auditory evoked potentials,... OMIM:125250
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Macular degeneration, Photophobia, Myopia, Microcephaly, Ret... ORPHA:816
Sandhoff Disease
Blindness, Cherry red spot of the macula ORPHA:796
Sturge-Weber Syndrome
Abnormality of vision, Iris coloboma, Abnormal choroid morphology, Cerebral cortical atrophy, Bli... ORPHA:3205
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Albinism, Oculocutaneous, Type Vi
Photophobia, Hypoplasia of the fovea, Visual impairment, Reduced visual acuity OMIM:113750
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Reduced visual acuity, Subreti... OMIM:305390
Hsd10 Disease, Infantile Type
Visual loss, Cerebral atrophy, Retinal degeneration, Frontotemporal cerebral atrophy, Blindness, ... ORPHA:391428
Posterior Column Ataxia With Retinitis Pigmentosa
Nyctalopia, Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of r... OMIM:609033
Congenital Hydrocephalus
Hydrocephalus, Iris coloboma, Small cerebral cortex, Macular hypoplasia, Abnormal cortical gyrati... ORPHA:2185
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Classic Pantothenate Kinase-Associated Neurodegeneration
Eye of the tiger anomaly of globus pallidus, Pigmentary retinopathy, Blindness, Rod-cone dystroph... ORPHA:216866
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Visual impairment OMIM:246000
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Reduced visual acuity, Blindness, Vitreoretinopathy, Abnormality of the optic disc, Retinal vascu... ORPHA:440727
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Visual impairment, Microcephaly, Optic atr... ORPHA:1528
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Hemeralopia, Dyschromatopsia, Visual impairment, Photophobia, Macular degeneration OMIM:617236
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration OMIM:249270
Optic Atrophy 8
Visual loss, Prolonged somatosensory evoked potentials, Central scotoma, Abnormality of pattern v... OMIM:616648
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy, Visual impairment OMIM:617717
Leukoencephalopathy With Ataxia
Abnormal chorioretinal morphology, Visual field defect, Leukoencephalopathy, Optic neuropathy OMIM:615651
Late Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Corpus callosum atrophy, Reduced visual acuity, Cerebral atrophy, Myopia, Retinal de... ORPHA:168491
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Visual impairment, Reduced visual acuity OMIM:258501
Bardet-Biedl Syndrome 3
Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Visual impairment OMIM:600151
Bornholm Eye Disease
Protanopia, Abnormality of retinal pigmentation, Amblyopia, High myopia, Optic nerve hypoplasia, ... OMIM:300843
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Congenital blindness, Severely r... ORPHA:2788
Leptin Receptor Deficiency
Aggressive behavior, Abnormal hypothalamus morphology, Decreased response to growth hormone stimu... OMIM:614963
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Myopia, Retinal dystrophy, Amblyopia, Hypermetropia ORPHA:370022
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Ventriculomegaly, Failure to thrive in infancy, Intrauterine... ORPHA:858
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w... OMIM:615191
Congenital Muscular Dystrophy, Fukuyama Type
Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Myopia, Retinal dysplasia, Visu... ORPHA:272
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Nyctalopia, Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology ORPHA:1390
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Optic atrophy, Hydrocephalus, Dandy-Walke... OMIM:617281
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Progressive night blindness, Patchy atrophy of the retinal pigment epithelium, Constriction of pe... ORPHA:436245
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Hydrocephalus, Retinal degeneration OMIM:615630
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, High hypermetropia, Visual impairment, Reduced visual acuity OMIM:613835
Oculocutaneous Albinism, Type Viii
Photophobia, Hypoplasia of the fovea, Chorioretinal hypopigmentation, Reduced visual acuity OMIM:619165
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal cerebral white matter morphology, Optic atrophy, Type II lissencephaly, Hydrocephalus ORPHA:352682
Gyrate Atrophy Of Choroid And Retina
Blindness, Nyctalopia, Chorioretinal atrophy, Myopia OMIM:258870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Coloboma, Abnormal cerebral white matter morphology, Myopia, A... OMIM:613153
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Sensory axonal neuropathy, Nyctalopia, Optic atrophy, Hydrocephalus ORPHA:99947
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Retinal degeneration OMIM:615994
Retinal Dystrophy With Or Without Macular Staphyloma
Central scotoma, Nyctalopia, Photophobia, Retinal dystrophy OMIM:617547
Albers-Schönberg Osteopetrosis
Blindness, Facial palsy, Visual impairment, Optic atrophy, Hydrocephalus ORPHA:53
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Retinitis Pigmentosa 89
Nyctalopia, Retinal thinning, Constriction of peripheral visual field, Hyperautofluorescent retin... OMIM:618955
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Rod-cone dystrophy, Optic disc pallor, Reduced visual acuity OMIM:615434
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthostatic hypotension, Hy... ORPHA:2822
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Iris coloboma, Aganglionic meg... ORPHA:2318
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Nyctalopia, Retinal atrophy, Retinal pigment epithelial ... OMIM:616959
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Peripheral demyelination OMIM:200100
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Reduced visual acuity, Optic disc hypoplasia, Peripheral vitreous opaciti... ORPHA:137902
Night Blindness, Congenital Stationary, Type 1C
Reduced visual acuity, Myopia, Congenital stationary night blindness OMIM:613216
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Macular degeneration, Choroidal neovascularization ORPHA:404451
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Visual loss, Abnormality of retinal pigmentation, Nyctalopia, ... ORPHA:5
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of vision, Cerebral atrophy, Retinal degeneration, Abnormal corpus callosum morpholog... ORPHA:442835
Optic Atrophy 11
Hypermetropia, Myopia, Amblyopia, Optic atrophy, Leukoencephalopathy, Visual impairment, Microcep... OMIM:617302
Sarcosinemia
Congenital blindness, Optic atrophy ORPHA:3129
Refsum Disease, Classic
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Abnormal cerebral white matter morphology, Abnormal autonomic nervous sy... ORPHA:35069
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Microcephaly, Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Ataxia With Vitamin E Deficiency
Nyctalopia, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Visual ... ORPHA:96
Papilloma Of Choroid Plexus
Papilledema, Hydrocephalus OMIM:260500
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Myopia, Retinal detachment ORPHA:90654
Scheie Syndrome
Retinal degeneration OMIM:607016
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Diencephalic Syndrome
Hydrocephalus, Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Wolfram Syndrome, Mitochondrial Form
Blindness, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Pineocytoma
Cognitive impairment, Increased CSF protein, Memory impairment, Hydrocephalus ORPHA:251912
Pantothenate Kinase-Associated Neurodegeneration
Eye of the tiger anomaly of globus pallidus, Nyctalopia, Retinal flecks, Pallidal degeneration, P... ORPHA:157850
Idiopathic Panuveitis
Vitreous haze, Reduced visual acuity, Abnormality of vision, Vitreous snowballs, Epiretinal membr... ORPHA:280921
Spastic Paraplegia 75, Autosomal Recessive
Hypermetropia, Optic atrophy, Corpus callosum atrophy, Reduced visual acuity OMIM:616680
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Absent retinal pigment epithelium, Visual impairment, Reduced visual acuity OMIM:122430
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Central scotoma, Cerebral white matter hypoplasia, Abnormal co... ORPHA:543470
Cohen Syndrome
Nyctalopia, Reduced visual acuity, Bull's eye maculopathy, Myopia, Chorioretinal dystrophy, Optic... OMIM:216550
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Recurrent subcortical infarcts, Nonarteritic anterior ischemic optic neuropathy, Leu... OMIM:125310
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Chorioretinal coloboma, Retinal coloboma, Iris coloboma, Severely reduced visual acuity, Moderate... ORPHA:2921
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Iris coloboma, Retinal detachment, Visual impairment, Optic atrophy ORPHA:1473
Pyruvate Dehydrogenase E2 Deficiency
Eye of the tiger anomaly of globus pallidus, Retinal degeneration, Iron accumulation in globus pa... ORPHA:79244
Enhanced S-Cone Syndrome
Nyctalopia, Pigmentary retinopathy, Hemeralopia, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Optic atrophy, Visual impairment, Reduced visual acuity OMIM:270500
Microspherophakia With Hernia
Myopia, Superior lens subluxation, Retinal detachment OMIM:157150
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Constriction of peripheral visual field, Optic disc pallor OMIM:182830
Leukodystrophy, Hypomyelinating, 14
Blindness, Microcephaly, Cerebral atrophy OMIM:617899
Oculocutaneous Albinism Type 1
Reduced visual acuity, Abnormal morphology of the choroidal vasculature, Amblyopia, Depigmented f... ORPHA:352731
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Infantile Refsum Disease
Nyctalopia, Facial palsy, Constriction of peripheral visual field, Visual impairment, Optic atrop... ORPHA:772
Microspherophakia-Metaphyseal Dysplasia
Lens subluxation, Myopia, Retinal detachment, Lens coloboma OMIM:157151
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Hypoplasia of the corpus callosum, Cerebral atrophy, Seconda... ORPHA:397951
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Severely reduced visual acuity, Abnormality of the optic disc ORPHA:65
Joubert Syndrome 22
Retinal dysplasia, Hypoplasia of the corpus callosum, Temporal cortical atrophy, Coloboma OMIM:615665
Joubert Syndrome 6
Blindness, Chorioretinal coloboma, Retinal degeneration OMIM:610688
Papilloma Of Choroid Plexus
Cognitive impairment, Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Pachygyria, Type II lissencephaly, Retinal atrophy, Hydrocephalus, Coloboma, Hypoplasia of the co... OMIM:236670
Usher Syndrome
Abnormality of retinal pigmentation, Nyctalopia, Visual field defect, Myopia, Cerebral cortical a... ORPHA:886
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Cerebral atrophy, Retinal degeneration, Periphe... OMIM:272200
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Gliosis, Cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Abnor... OMIM:256600
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Glaucoma 1, Open Angle, F
Glaucomatous visual field defect, Increased cup-to-disc ratio OMIM:603383
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia, Retinal detachment ORPHA:35737
Cone-Rod Dystrophy 6
Macular atrophy, Reduced visual acuity, Hemeralopia, Progressive night blindness, Cone/cone-rod d... OMIM:601777
Spinocerebellar Ataxia Type 7
Visual loss, Photophobia, Reduced visual acuity, Hemeralopia, Cerebral atrophy, Cone/cone-rod dys... ORPHA:94147
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity OMIM:601794
Cataract 21, Multiple Types
Macular hypoplasia, Iris coloboma, Retinal detachment OMIM:610202
Jalili Syndrome
Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia, Optic a... ORPHA:1873
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Visual field defect, Retinal degeneration, Cerebral cortical atrophy, Abnormality of ... ORPHA:166035
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep... OMIM:618709
Canavan Disease
Blindness, Optic atrophy OMIM:271900
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Photophobia, High hypermetropia, Severely reduced visual ac... OMIM:613826
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Mohr-Tranebjaerg Syndrome
Visual loss, Central scotoma, Color vision defect, Absent brainstem auditory responses, Cerebral ... ORPHA:52368
Primary Angiitis Of The Central Nervous System
Diplopia, Reduced visual acuity, Recurrent subcortical infarcts, Abnormal visual field test, Blur... ORPHA:140989
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Peripheral vitreoretinal degeneration, Retinal detachment, High myopia OMIM:614292
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Central scotoma, Color vision defect, Axonal degenerat... OMIM:601152
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Reduced visual acuity, Hypermetropi... OMIM:152950
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Cone/cone-rod dystrophy, Visual impairment, Photophobia, Optic atrophy, High h... ORPHA:1021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Retinal atrophy, Co... OMIM:253280
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Osteopetrosis, Autosomal Recessive 1
Facial paralysis, Blindness, Facial palsy, Visual impairment, Optic atrophy, Hydrocephalus OMIM:259700
Coats Disease
Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment ORPHA:190
Cancer-Associated Retinopathy
Visual loss, Vitritis, Retinal atrophy, Reduced visual acuity, Central scotoma, Retinal pigment e... ORPHA:71505
Knobloch Syndrome
Visual loss, Abnormal vitreous humor morphology, Ectopia lentis, Myopia, Vitreoretinopathy, Retin... ORPHA:1571
Cerebral Visual Impairment
Abnormal cerebral white matter morphology, Visual field defect, Severely reduced visual acuity, R... ORPHA:447788
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Rod-cone dystrophy, Reduced visual acuity OMIM:619082
Pettigrew Syndrome
Ventriculomegaly, Self-injurious behavior, Flexion contracture, Abnormality of the basal ganglia,... OMIM:304340
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Optic neuritis, Blindness, Microcephaly, Optic atrophy... ORPHA:135
Aceruloplasminemia
Retinal degeneration OMIM:604290
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Iris coloboma, Lens subluxation, Reduced visual acuity OMIM:216820
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis, Visual impairment OMIM:605808
Papillorenal Syndrome
Gliosis, Retinal coloboma, Lens luxation, Chorioretinal atrophy, Morning glory anomaly, Macular h... OMIM:120330
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Reduced visual acuity, Morning glory anomaly, Optic nerv... OMIM:165550
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Xylosidase Deficiency
Blindness, Microcephaly OMIM:278900
Aland Island Eye Disease
Hypoplasia of the fovea, Myopia, Severely reduced visual acuity OMIM:300600
Neurofibromatosis Type 2
Neuroma, Visual loss, Remnants of the hyaloid vascular system, Diplopia, Bilateral vestibular Sch... ORPHA:637
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness, Microcephaly, Optic atrophy, Dilation of lateral ventricles ORPHA:3078
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Undetectable visual evoked potentials, Hydrocephalus, Abnormal cerebral c... ORPHA:163961
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Lowry-Wood Syndrome
Microcephaly, Nyctalopia, Peripheral visual field loss, Pigmentary retinopathy OMIM:226960
Juvenile Glaucoma
Retinal vein occlusion, Temporal optic disc pallor, Central scotoma, Abnormality of the optic ner... ORPHA:98977
White-Sutton Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Iris coloboma, Myopia, Abnormality of visual... OMIM:616364
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Visual impairment, Decreased nerve conduction velocity, S... ORPHA:485421
Micro Syndrome
Abnormality of retinal pigmentation, Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Retin... ORPHA:2510
Retinal Dystrophy With Or Without Extraocular Anomalies
Reduced visual acuity, Retinal dystrophy OMIM:617175
Stickler Syndrome, Type V
High myopia, Vitreoretinopathy, Retinal detachment OMIM:614284
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Werner Syndrome
Retinal degeneration OMIM:277700
Oculocutaneous Albinism Type 5
Photophobia, Reduced visual acuity, Ocular albinism, Abnormal fundus morphology, Hypoplasia of th... ORPHA:370091
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Optic Atrophy-Intellectual Disability Syndrome
Reduced visual acuity, Optic disc hypoplasia, Hypoplasia of the corpus callosum, Visual field def... ORPHA:401777
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Cerebral atrophy, Myopia, Cerebral vi... OMIM:616875
Muscle-Eye-Brain Disease
Holoprosencephaly, Myopia, Meningocele, Visual impairment, Optic atrophy, Hydrocephalus ORPHA:588
Aica-Ribosuria Due To Atic Deficiency
Congenital blindness, Optic atrophy OMIM:608688
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Reduced visual acuity, Ocular albinism, Optic nerve misrouti... ORPHA:79435
Autosomal Recessive Stickler Syndrome
Amblyopia, Vitreoretinopathy, Myopia, Retinal detachment ORPHA:250984
Madras Motor Neuron Disease
Optic atrophy, Visual impairment, Facial palsy, Reduced visual acuity ORPHA:137867
Wildervanck Syndrome
Meningocele, Pseudopapilledema, Facial palsy, Lens subluxation ORPHA:3456
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Angioid streaks of the fundus, Retinopathy, Retinal degeneration OMIM:239000
Refsum Disease
Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Visual impairment, Progre... ORPHA:773
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Visual loss, Nyctalopia, Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Bone... ORPHA:88628
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Nasu-Hakola Disease
Ventriculomegaly, Cerebral cortical atrophy, Abnormal adipose tissue morphology, Irritability, Ce... ORPHA:2770
Megalocornea
Lens subluxation, Retinal detachment, Reduced visual acuity OMIM:309300
Renal Coloboma Syndrome
Retinal coloboma, Optic disc coloboma, Myopia, Optic nerve dysplasia, Visual impairment ORPHA:1475
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blindness, Pigmentary retinopathy OMIM:560000
Walker-Warburg Syndrome
Agenesis of corpus callosum, Chorioretinal dysplasia, Pachygyria, Absent septum pellucidum, Ventr... ORPHA:899
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Ectopia Lentis Et Pupillae
High myopia, Ectopia lentis, Retinal detachment OMIM:225200
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... ORPHA:448237
Albinism, Oculocutaneous, Type Ii
Reduced visual acuity, Myopia, Hypopigmentation of the fundus, Visual impairment, Hypoplasia of t... OMIM:203200
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Short stature, Microcephaly, Agenesis of corpus callosum OMIM:303350
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Visual impairment, Microcephaly, Optic atrophy, Abnormality of visual ... ORPHA:702
Senior-Loken Syndrome 4
Amblyopia, Rod-cone dystrophy, Severely reduced visual acuity OMIM:606996
Isolated Succinate-Coq Reductase Deficiency
Blindness, Pigmentary retinopathy, Reduced visual acuity ORPHA:3208
Infantile Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, Hypointensity of cerebral white matt... ORPHA:206436
Pseudoxanthoma Elasticum, Forme Fruste
Reduced visual acuity, Myopia, Calcification of falx cerebri, Retinal hemorrhage, Visual impairme... OMIM:177850
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Diplopia, Macular degeneration ORPHA:284289
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Visual loss, Nyctalopia, Myopia, Cone/cone-rod dystrophy, Color vision defect, Peripheral visual ... ORPHA:85167
Joubert Syndrome 35
Nyctalopia, Rod-cone dystrophy, Progressive visual loss OMIM:618161
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Congenital blindness, Retinal dystrophy OMIM:263100
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Coach Syndrome 2
Coloboma, Chorioretinal coloboma, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Reese Retinal Dysplasia