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
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Macular atrophy, Visual imp... OMIM:603649
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Reduced visual acuity, Ret... OMIM:608051
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Full-thickn... ORPHA:75377
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Reduced visual acuity, Peripheral retinal atrophy, Central s... OMIM:136550
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... OMIM:605670
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Progressive visual loss, Macular scar, Drusen OMIM:615439
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular atrophy, Macular dystrophy, Visual impairment OMIM:600110
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration, Visual impairment OMIM:618513
Retinitis Pigmentosa 48
Rod-cone dystrophy, Visual impairment, Macular degeneration OMIM:613827
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Retinal, 3
Color vision defect, Reduced visual acuity, Retinal pigment epithelial atrophy, Central scotoma, ... OMIM:608850
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Macular dystrophy, Visual ... OMIM:153700
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Optic disc pallor, Central scotoma, Visual impairment, Macular dystrophy, ... OMIM:616170
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Bothnia Retinal Dystrophy
Visual field defect, Increased OCT-measured foveal thickness, Retinal degeneration, Macular degen... ORPHA:85128
Macular Degeneration, Early-Onset
Reduced visual acuity, Choroidal neovascularization, Macular degeneration OMIM:616118
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Macular degeneration, C... OMIM:600138
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Visual field defect, Choroideremia, Color vision defect, Metamorpho... ORPHA:1243
Peripheral Cone Dystrophy
Peripheral retinal degeneration, Pericentral scotoma, Cone/cone-rod dystrophy, Optic atrophy, Opt... OMIM:609021
Retinitis Pigmentosa 80
Progressive visual loss, Blindness, Macular atrophy OMIM:617781
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, ... ORPHA:41751
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Retinal Cone Dystrophy 1
Photophobia, Retinal degeneration, Color vision defect, Cone/cone-rod dystrophy, Progressive visu... OMIM:180020
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinitis Pigmentosa 32
Photophobia, Photoreceptor layer loss on macular OCT, Retinal degeneration, Nyctalopia, Reduced v... OMIM:609913
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Retinal degeneration OMIM:601780
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... OMIM:180210
Macular Degeneration, X-Linked Atrophic
Reduced visual acuity, Macular degeneration OMIM:300834
Leber Congenital Amaurosis With Early-Onset Deafness
Reduced visual acuity, High hypermetropia, Retinal degeneration OMIM:617879
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Dystrophy, Vitelliform, 5
Reduced visual acuity, Vitelliform-like macular lesions, Moderately reduced visual acuity, Centra... OMIM:616152
Retinitis Pigmentosa 29
Blindness, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612165
Retinitis Pigmentosa 30
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Opti... OMIM:607921
Retinoschisis 1, X-Linked, Juvenile
Hypermetropia, Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epi... OMIM:312700
Leber Congenital Amaurosis 12
Abnormality of macular pigmentation, Congenital blindness OMIM:610612
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Spina bifida, Retinal degeneration, Myopia OMIM:311000
Leber Congenital Amaurosis 13
Reduced visual acuity, Attenuation of retinal blood vessels, Retinal dystrophy, Optic disc pallor... OMIM:612712
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Photophobia, Absent foveal reflex, Hypoautofluorescent ... OMIM:619531
Retinitis Pigmentosa 27
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal... OMIM:613750
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Constriction of peripheral visual field, Rod-cone dy... OMIM:600059
Retinitis Pigmentosa 33
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... OMIM:610359
Retinitis Pigmentosa 38
Nyctalopia, Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy, P... OMIM:613862
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Rod-cone dystrophy, Severely reduced visual acuity ORPHA:3011
Retinitis Pigmentosa 31
Visual field defect, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment ep... OMIM:609923
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Choroideremia
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... OMIM:303100
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615922
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Persistent Placoid Maculopathy
Abnormal macular morphology, Reduced visual acuity, Retinal pigment epithelial mottling, Hypoplas... ORPHA:97341
Wagner Vitreoretinopathy
Visual field defect, Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chori... OMIM:143200
Leber Congenital Amaurosis 4
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy,... OMIM:604393
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:610189
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Visual loss, Optic atrophy, Blindness OMIM:610951
Retinitis Pigmentosa 57
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy OMIM:613582
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Nyctalopia,... ORPHA:827
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Cone-Rod Dystrophy 16
Photophobia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood ... OMIM:614500
Retinitis Pigmentosa 76
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:617123
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
Macular Dystrophy, Vitelliform, 4
Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity, Drusen OMIM:616151
Cone-Rod Dystrophy 13
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Cone/cone-rod dyst... OMIM:608194
Cone-Rod Dystrophy, X-Linked, 1
Photophobia, Nyctalopia, Retinal pigment epithelial mottling, Color vision defect, Reduced visual... OMIM:304020
Retinitis Pigmentosa 19
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:601718
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness OMIM:136900
Retinitis Pigmentosa 47
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Visual impairment OMIM:613758
Macular Dystrophy, Patterned, 1
Photophobia, Reticular retinal dystrophy, Nyctalopia, Dark choroid, Choroidal neovascularization,... OMIM:169150
Achromatopsia
Photophobia, Hypermetropia, Color vision test abnormality, Absent foveal reflex, Abnormal macular... ORPHA:49382
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Retinal telangiectasia, Reduced visual acuity, Central retinal vessel ... OMIM:619382
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Blindness, Rod-cone dystrophy OMIM:551500
Leber Congenital Amaurosis 2
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Attenuation of retinal bloo... OMIM:204100
Cone-Rod Dystrophy 11
Photophobia, Slow decrease in visual acuity, Macular degeneration, Cone/cone-rod dystrophy, Macul... OMIM:610381
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Usher Syndrome, Type Iv
Ring scotoma, Retinal degeneration, Nyctalopia, Constriction of peripheral visual field, Retinal ... OMIM:618144
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Blindness, Severely reduced visual acuity OMIM:309555
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinitis Pigmentosa 71
Perifoveal ring of hyperautofluorescence, Nyctalopia, Rod-cone dystrophy, Attenuation of retinal ... OMIM:616394
Macular Dystrophy, Vitelliform, 3
Photophobia, Reduced visual acuity, Vitelliform-like macular lesions, Choroidal neovascularizatio... OMIM:608161
Optic Atrophy 5
Optic atrophy, Central scotoma, Slow decrease in visual acuity, Tritanomaly OMIM:610708
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Rod-cone dystrophy, Nyctalopia OMIM:615725
Retinitis Pigmentosa 63
Optic disc pallor, Blurred vision, Nyctalopia, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 50
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Attenuation of retinal... OMIM:613194
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Ceroid Lipofuscinosis, Neuronal, 2
Progressive visual loss, Retinal degeneration OMIM:204500
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Macular degeneration, Reduced visual acuity, Optic disc ... OMIM:618195
Retinitis Pigmentosa 90
Cystoid macular edema, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity... OMIM:619007
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 54
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Fundus atrophy, Bone spicul... OMIM:613428
Macular Dystrophy, Vitelliform, 1
Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Retinitis Pigmentosa 1
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:180100
Retinitis Pigmentosa 37
Cystoid macular degeneration, Photophobia, Nyctalopia, Rod-cone dystrophy, Tritanomaly, Red-green... OMIM:611131
Retinitis Pigmentosa 4
Visual field defect, Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Blindness OMIM:613731
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Reduced visual acuity, Optic atro... OMIM:204200
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Nyctalopia, Ultra-low vision with retained light perception, Retinal ... OMIM:608553
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-... OMIM:611040
Retinitis Pigmentosa 61
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation o... OMIM:614180
Cone-Rod Dystrophy 15
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Color visio... OMIM:613660
Morm Syndrome
Visual impairment, Retinal atrophy, Retinal dystrophy, Progressive night blindness ORPHA:75858
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of pe... OMIM:267760
Choroideremia
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... ORPHA:180
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Optic disc pallor, Central sco... OMIM:616079
Retinitis Pigmentosa 17
Photophobia, Nyctalopia, Rod-cone dystrophy, Color vision defect, Bone spicule pigmentation of th... OMIM:600852
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Optic atrophy, Progressive visual loss, Blindness OMIM:256730
Retinitis Pigmentosa 78
Visual field defect, Cystoid macular edema, Nyctalopia, Reduced visual acuity, Optic disc pallor,... OMIM:617433
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Color vision defect, Retinal dystrophy, Scotoma, Visual impairment OMIM:607476
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Nyctalopia, Reduced visual acuity, Attenuation of re... OMIM:618826
Retinitis Pigmentosa 35
Blindness, Nyctalopia, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:610282
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Cone-Rod Dystrophy 21
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Macular atrophy OMIM:616502
Retinitis Pigmentosa 28
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic disc pallor, Bone ... OMIM:606068
Cone-Rod Dystrophy 12
Nyctalopia, Color vision defect, Reduced visual acuity, Cone/cone-rod dystrophy, Central scotoma,... OMIM:612657
Retinitis Pigmentosa 7
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... OMIM:608133
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Constriction of peripheral visual field, Chorioretinal atrophy, High myopia... OMIM:210370
Retinitis Pigmentosa 62
Optic disc pallor, Visual field defect, Rod-cone dystrophy, Nyctalopia OMIM:614181
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Reduced visual acuity, Peripheral retinal atrophy, Retinal dystrophy, Iris ... OMIM:615147
Retinitis Pigmentosa 20
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely... OMIM:613794
Cone Rod Dystrophy
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Color vision defect, Visual impairment ORPHA:1872
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy,... OMIM:616188
X-Linked Neurodegenerative Syndrome, Bertini Type
Agenesis of corpus callosum, Macular degeneration ORPHA:85334
Retinoschisis Of Fovea
Hypermetropia, Foveoschisis, Nyctalopia, Rod-cone dystrophy, Visual loss, Mildly reduced visual a... OMIM:268080
Cone Dystrophy 3
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Macular atrophy, Progressive visual ... OMIM:602093
Achromatopsia 7
Photophobia, Absent foveal reflex, Reduced visual acuity, Hypoplasia of the fovea, Central scotom... OMIM:616517
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Congenital stationary night blindness, Blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Blindness OMIM:613830
Retinitis Pigmentosa 9
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Macular a... OMIM:180104
Nanophthalmos 4
Reduced visual acuity, Visual impairment, Optic disc drusen OMIM:615972
Congenital Stationary Night Blindness
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... ORPHA:215
Retinitis Pigmentosa 18
Progressive visual field defects, Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia... OMIM:601414
Retinitis Pigmentosa 79
Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Optic di... OMIM:617460
Familial Drusen
Perifoveal ring of hyperautofluorescence, Photophobia, Granular macular appearance, Abnormality o... ORPHA:75376
Leber Congenital Amaurosis 15
Hypermetropia, Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Color vision defect, Retinop... OMIM:613843
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... OMIM:120970
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Nyctalopia, Rod-co... OMIM:613801
Leber Congenital Amaurosis 1
Photophobia, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Pigmentary ... OMIM:204000
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Scotoma, Reduced visual acuity OMIM:165300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Visual impairment, Chorioretinal dysplasia OMIM:616335
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Reduced visual acuity, Choroidal neovascularization, Nycta... OMIM:619977
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Visual impairment, Abnormal retinal vascular morphology, Ret... ORPHA:1852
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinitis Pigmentosa 85
Reduced visual acuity, Rod-cone dystrophy, Progressive night blindness OMIM:618345
Tritanopia
Color vision test abnormality, Photophobia, Tritanomaly, Reduced visual acuity, Abnormal retinal ... ORPHA:88629
Leber Congenital Amaurosis 14
Photophobia, Nyctalopia, Rod-cone dystrophy, Congenital blindness, Reduced visual acuity, Retinal... OMIM:613341
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Retinal atrophy, Rod-cone dystrophy, Nyctalopia OMIM:616544
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Visual impairment, Retinal dystrophy OMIM:610156
Retinitis Pigmentosa 2
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pericentra... OMIM:312600
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal fold, Retinal hol... OMIM:605750
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Absent foveal reflex, Abnormality of macular pigmentation, Color vision defect, Redu... OMIM:300476
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Retinal Capillary Malformation
Blindness, Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Reduced visual acuity, ... ORPHA:71213
Jalili Syndrome
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Optic disc pallor, Monochromacy OMIM:217080
Usher Syndrome, Type Iiia
Visual field defect, Reduced visual acuity, Nyctalopia, Rod-cone dystrophy OMIM:276902
Irvan Syndrome
Photophobia, Reduced visual acuity, Macular edema, Retinal detachment, Blurred vision, Optic atro... ORPHA:209943
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Birdshot Chorioretinopathy
Photophobia, Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macul... ORPHA:179
Retinitis Pigmentosa 3
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... OMIM:300029
Retinitis Pigmentosa 12
High hypermetropia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal... OMIM:600105
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Blurred vision, Retinal ... ORPHA:411527
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Visual impairment, Dyschromatopsia OMIM:613093
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypoplasia of the ... OMIM:617406
Retinitis Pigmentosa 92
Nyctalopia, Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma,... OMIM:619614
Optic Atrophy 12
Photophobia, Reduced visual acuity, Abnormal Ishihara plate test, Optic atrophy, Optic disc pallo... OMIM:618977
Retinal Cone Dystrophy 3B
Photophobia, Nyctalopia, Cone/cone-rod dystrophy, Macular atrophy, Scotoma, Myopia OMIM:610356
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Reduced visual acuity, Visual impairment, Tractional retinal detachm... OMIM:613310
Mucolipidosis Iv
Photophobia, Dysplastic corpus callosum, Retinal degeneration, Optic atrophy, Visual impairment OMIM:252650
Optic Pathway Glioma
Visual field defect, Hydrocephalus, Papilledema, Reduced visual acuity, Visual loss, Optic atroph... ORPHA:2086
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy, Nyctalopia OMIM:179840
Canavan Disease
Blindness, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Optic at... ORPHA:141
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615982
Optic Atrophy 9
Red-green dyschromatopsia, Reduced visual acuity, Optic atrophy, Paracentral scotoma, Visual impa... OMIM:616289
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Congenital stationary night blindness, Visual impairment, Myopia OMIM:614565
Retinitis Pigmentosa 6
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Pigmentary retinopathy, ... OMIM:312612
Wolfram-Like Syndrome, Autosomal Dominant
Reduced visual acuity, Optic atrophy, Optic disc pallor, Blind-spot enlargment, Severely reduced ... OMIM:614296
Retinitis Pigmentosa 51
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Attenua... OMIM:613464
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Pigmentary retinopathy, Macular atrophy, Visual impairment, Myopia ORPHA:75373
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Cavitary Optic Disc Anomalies
Visual field defect, Peripapillary atrophy, Nyctalopia, Reduced visual acuity OMIM:611543
Retinitis Pigmentosa
Abnormality of fundus pigmentation, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral vi... OMIM:268000
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Diplopia, Mizuo ... ORPHA:75382
Blue Cone Monochromacy
Photophobia, Blue cone monochromacy, Abnormality of macular pigmentation, Reduced visual acuity, ... OMIM:303700
Retinitis Pigmentosa 60
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:613983
Usher Syndrome, Type 1M
Optic disc pallor, Nyctalopia, Drusen OMIM:618632
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia, Retinal detachment, Blindness, Myopia OMIM:615181
Fundus Albipunctatus
Fundus albipunctatus, Nyctalopia, Retinal flecks OMIM:136880
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia, Rod-cone dystrophy, Absent retinal pigment epithelium, Attenuation of retinal blood v... ORPHA:436274
Leber Congenital Amaurosis 16
Photophobia, Nyctalopia, Reduced visual acuity, Optic disc pallor, Visual impairment OMIM:614186
Ceroid Lipofuscinosis, Neuronal, 5
Progressive visual loss, Retinal degeneration OMIM:256731
Optic Atrophy 1
Centrocecal scotoma, Tritanomaly, Abnormal amplitude of pattern reversal visual evoked potentials... OMIM:165500
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Visual field defect, Visual impairment, Peripheral axonal neuropathy OMIM:616451
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... OMIM:601813
Retinitis Pigmentosa 41
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigme... OMIM:612095
Narp Syndrome
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mottling,... ORPHA:644
Retinitis Pigmentosa 58
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic... OMIM:613617
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Punctata Albescens
Photophobia, Progressive visual field defects, Absent foveal reflex, Cystoid macular edema, Abnor... ORPHA:52427
Retinitis Pigmentosa 10
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:180105
Idiopathic Uveal Effusion Syndrome
Visual field defect, Reduced visual acuity, Blurred vision, Subretinal fluid, Exudative retinal d... ORPHA:209956
Glaucoma 1, Open Angle, P
Glaucomatous visual field defect, Increased cup-to-disc ratio OMIM:177700
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Cone-Rod Dystrophy 8
Photophobia, Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degene... OMIM:605549
Retinitis Pigmentosa 86
Cystoid macular edema, Nyctalopia, Nummular pigmentation of the fundus, Attenuation of retinal bl... OMIM:618613
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, Cone/cone-ro... OMIM:615973
Retinal Cone Dystrophy 4
Photophobia, Constriction of peripheral visual field, Retinal pigment epithelial mottling, Reduce... OMIM:610478
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Peripheral axonal neuropathy, Retinal degeneration OMIM:275400
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Chorioretinal atrophy, Retinal detachment, Visual impairment, Myopia OMIM:600790
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive visual ... OMIM:264420
Cone-Rod Dystrophy 17
Photophobia, Cone/cone-rod dystrophy, Optic disc pallor, Central scotoma, Visual impairment OMIM:615163
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Macular degeneration, Peripheral axonal neuropathy, Choroida... OMIM:608895
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Blindness, Posterior vitreous detachment, Perip... OMIM:133780
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Visual impairment, Myopia ORPHA:1574
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Retinitis Pigmentosa 49
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal blood vessels, Opti... OMIM:613756
Retinitis Pigmentosa 77
Cystoid macular edema, Rod-cone dystrophy, Nyctalopia, Reduced visual acuity, Retinal atrophy OMIM:617304
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Reduced visual acuity, Myopia, Macular atrophy OMIM:602499
Retinitis Pigmentosa 66
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, O... OMIM:615233
Acute Zonal Occult Outer Retinopathy
Constriction of peripheral visual field, Retinal pigment epithelial mottling, Photopsia, Scotoma,... ORPHA:284454
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Retinitis Pigmentosa
Photophobia, Blindness, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology... ORPHA:791
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Visual loss, Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Blindness, Anencephaly, Agenesis of corpus callosum, Optic nerve dysplasia, Occipi... OMIM:615287
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Constriction of peripheral visual field OMIM:520000
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Retinal degeneration, Retinal pigment epithelial mottling, Attenuati... ORPHA:364055
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Agenesis of corpus callosum, Macular degeneration OMIM:612948
Krabbe Disease
Hydrocephalus, Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Opti... OMIM:245200
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Visual impairment, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Visual impairment ORPHA:2246
Late-Onset Retinal Degeneration
Photophobia, Nyctalopia, Macular degeneration, Tritanomaly, Patchy atrophy of the retinal pigment... ORPHA:67042
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Hydrocephalus, Retinal dysplasia OMIM:613154
Retinitis Pigmentosa 72
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced vis... OMIM:616469
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Optic disc pallor, Macular atrophy, Visual impairment OMIM:616171
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visual field, R... OMIM:618173
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus callosum OMIM:617542
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Hydrocephalus, Amblyopia ORPHA:26
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Photophobia, Color vision defect, Reduced visual acuity, Optic disc pallor, Central scotoma, Blin... OMIM:616732
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Adult-Onset Foveomacular Vitelliform Dystrophy
Visual field defect, Choroideremia, Color vision defect, Vitelliform-like macular lesions, Retina... ORPHA:99000
Chromosome Xq21 Deletion Syndrome
Choroideremia, Nyctalopia, Constriction of peripheral visual field, Chorioretinal atrophy, Progre... OMIM:303110
Gyrate Atrophy Of Choroid And Retina
Foveoschisis, Nyctalopia, Chorioretinal atrophy, Visual impairment, Blindness, Macular thickening... OMIM:258870
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretin... OMIM:602772
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Constriction of peripheral visual fiel... OMIM:616389
Spinocerebellar Ataxia 7
Optic atrophy, Progressive visual loss, Pigmentary retinopathy, Macular degeneration OMIM:164500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Retinal degeneration, Reduced visual acuity, Coloboma, Visual impairment, Agenesis... OMIM:615249
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Rod-cone dystrophy, Nyctalopia, Constriction of peripheral visua... OMIM:600132
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Retinitis Pigmentosa 56
Visual field defect, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retina... OMIM:613581
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Nyctalopia, Color vision defect, Retinal de... OMIM:193220
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Retinal Cone Dystrophy 3A
Photophobia, Nyctalopia, Reduced visual acuity, Cone dystrophy, High myopia, Dyschromatopsia OMIM:610024
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Poor eye contact, Flexion contracture, Self-mutilation, Optic atrophy OMIM:300884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Retinal dysplasia OMIM:614830
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration, Visual loss OMIM:300438
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Reduced visual acuity, Peripheral axonal neuropathy, Optic atrophy, Central... OMIM:615035
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
High hypermetropia, Retinal degeneration, Attenuation of retinal blood vessels, Geographic atroph... OMIM:619260
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Constriction of peripheral visual field, Abnormal macular morpho... ORPHA:414
Spastic Paraplegia 11, Autosomal Recessive
Retinal degeneration, Macular degeneration, Decreased number of peripheral myelinated nerve fiber... OMIM:604360
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Retinal dysplasia, Coloboma ORPHA:324416
Congenital Glaucoma
Retinal detachment, Visual loss ORPHA:98976
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Retinopathy, Blindness ORPHA:216873
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Macular atrophy, Chorioretinal coloboma OMIM:212550
Bardet-Biedl Syndrome 5
Macular dystrophy, Reduced visual acuity, Rod-cone dystrophy OMIM:615983
Cone-Rod Dystrophy 6
Photophobia, Hemeralopia, Nyctalopia, Chorioretinal atrophy, Reduced visual acuity, Progressive n... OMIM:601777
Retinitis Pigmentosa 43
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Opt... OMIM:613810
Optic Atrophy 6
Optic atrophy, Visual impairment, Red-green dyschromatopsia, Photophobia OMIM:258500
Retinitis Pigmentosa 26
Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of retinal blood vessels... OMIM:608380
Poretti-Boltshauser Syndrome
Retinal thinning, Amblyopia, Retinal dystrophy, Retinal atrophy, Myopia OMIM:615960
Cone-Rod Dystrophy 10
Photophobia, Nyctalopia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:610283
Foveal Hypoplasia 2
Reduced visual acuity, Hypoplasia of the fovea, Optic nerve misrouting, Foveal hyperpigmentation,... OMIM:609218
Retinitis Pigmentosa 45
Nyctalopia, Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pe... OMIM:613767
Retinitis Pigmentosa 93
Reduced visual acuity, Constriction of peripheral visual field, Rod-cone dystrophy, Retinal dots OMIM:619845
Neovascular Glaucoma
Photophobia, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Visual ac... ORPHA:94058
Posterior Column Ataxia With Retinitis Pigmentosa
Ring scotoma, Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Nyctalopia, Attenu... OMIM:609033
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Sjogren-Larsson Syndrome
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Retinal thinning, ... OMIM:270200
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Blindness, Macular degeneration ORPHA:1573
Nephronophthisis 14
Retinal degeneration OMIM:614844
Chromosome Xp11.3 Deletion Syndrome
Blindness, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Moderate myop... OMIM:300578
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity OMIM:618770
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Sandhoff Disease
Blindness, Cherry red spot of the macula ORPHA:796
Åland Islands Eye Disease
Color vision defect, Reduced visual acuity, Hypoplasia of the fovea, Difficulty adjusting from li... ORPHA:178333
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Color vision defect, Reduced visual acuity, Optic atrophy, O... ORPHA:98890
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hydrocephalus, Elbow flexion contracture, Aggressive behavior OMIM:619470
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Centrocecal scotoma, Abnormal amplitude of pattern reversal visual evoked potentials, Tritanomaly... OMIM:125250
Optic Atrophy 7 With Or Without Auditory Neuropathy
Constriction of peripheral visual field, Reduced visual acuity, Optic atrophy, Optic disc pallor,... OMIM:612989
Cone-Rod Dystrophy 3
Color vision defect, Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod ... OMIM:604116
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Reduced visual acuity, Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morpho... ORPHA:440727
Leber Congenital Amaurosis 8
High hypermetropia, Chorioretinal atrophy, Nummular pigmentation of the fundus, Reduced visual ac... OMIM:613835
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity, Reduced visual acuity, Cerebral visual impairment OMIM:618768
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, High hypermetropia, Retinal pigment epithelial mottling,... OMIM:145350
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Reduced visual acuity, Central retinal vessel vascular tortu... ORPHA:506353
Leber Congenital Amaurosis
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Severely redu... ORPHA:65
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology,... ORPHA:370097
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal basal ganglia morphology, Small basal ganglia, Postnatal growth retardation, Normal pres... ORPHA:300570
Fried Syndrome
Hydrocephalus, Aggressive behavior, Abnormality of the optic nerve ORPHA:85335
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Blindness, Retinal detachment, Visual loss ORPHA:171844
Albinism, Oculocutaneous, Type Vi
Photophobia, Reduced visual acuity, Visual impairment, Hypoplasia of the fovea OMIM:113750
Severe Canavan Disease
Optic atrophy, Blindness ORPHA:314911
Bardet-Biedl Syndrome 3
Visual impairment, Pigmentary retinopathy, Rod-cone dystrophy, Nyctalopia OMIM:600151
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Reduced visual acuity, Falcifor... OMIM:305390
Chromosome 16Q12 Duplication Syndrome
Photophobia, Nyctalopia, Tritanomaly, Retinal pigment epithelial mottling, Reduced visual acuity,... OMIM:619649
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Amblyopia, High myopia, Protanopia, ... OMIM:300843
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Peripheral axonal neuropathy, Visual loss, Optic atrophy, Undetectable visual evoked potentials, ... OMIM:601338
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Prolonged somatosensory evoked potentials, Visua... OMIM:616648
Cone-Rod Dystrophy And Hearing Loss 1
Photophobia, Hemeralopia, Macular degeneration, Retinal atrophy, Visual impairment, Dyschromatopsia OMIM:617236
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Visual loss, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Retinopathy, Pigmentary, And Mental Retardation
Reduced visual acuity, Visual impairment, Pigmentary retinopathy, Myopia OMIM:268050
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma OMIM:300864
Leg, Absence Deformity Of, With Congenital Cataract
Visual impairment, Optic nerve dysplasia OMIM:246000
Atypical Teratoid Rhabdoid Tumor
Apathy, Hydrocephalus, Irritability ORPHA:99966
Ceroid Lipofuscinosis, Neuronal, 10
Visual loss, Sensory axonal neuropathy, Retinal atrophy, Rod-cone dystrophy OMIM:610127
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration, Reduced visual acuity, Peripheral axonal neuropathy, ... OMIM:270700
Sturge-Weber Syndrome
Hydrocephalus, Abnormal retinal vascular morphology, Retinal detachment, Abnormality of vision, H... ORPHA:3205
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Re... OMIM:251270
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Blindness, Optic nerve hypoplasia, Retinal detachment, Coloboma, Optic atrophy, Oc... ORPHA:370959
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Constriction of peripheral visual field, Abnormality of visu... ORPHA:1215
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Congenital blindness, Retinal detachment, Moderately reduced visual ... ORPHA:2788
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Hypermetropia, Amblyopia, Retinal dystrophy, Retinal atrophy, Myopia ORPHA:370022
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Visual impairment, Rod-cone dystrophy OMIM:617717
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Myopia, Nyctalopia ORPHA:1390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Hydrocephalus, Sensory axonal neuropathy, Nyctalopia ORPHA:99947
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Pigmentary retinopathy, Visual loss, Optic disc pallor, Blindness, Large ce... ORPHA:79264
Retinitis Pigmentosa 89
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Retinal thinning, Hypera... OMIM:618955
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Retinal degeneration, Nyctalopia OMIM:615630
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Constriction of peripheral visual field, Patchy atrophy of the retinal pigmen... ORPHA:436245
Sjögren-Larsson Syndrome
Photophobia, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Myopia ORPHA:816
Achromatopsia 2
Photophobia, Hemeralopia, Absent foveal reflex, Nyctalopia, Dull foveal reflex, Reduced visual ac... OMIM:216900
Leukoencephalopathy With Vanishing White Matter
Optic atrophy, Gliosis, Blindness OMIM:603896
Albers-Schönberg Osteopetrosis
Hydrocephalus, Blindness, Optic atrophy, Facial palsy, Visual impairment ORPHA:53
Retinal Dystrophy With Or Without Macular Staphyloma
Photophobia, Central scotoma, Nyctalopia, Retinal dystrophy OMIM:617547
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:614947
Oculocutaneous Albinism, Type Viii
Photophobia, Reduced visual acuity, Chorioretinal hypopigmentation, Hypoplasia of the fovea OMIM:619165
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy OMIM:615434
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Reduced visual acuity, Iris coloboma, Retinal atrophy OMIM:616722
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Retinopathy, Chorioretinal atrophy,... ORPHA:5
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Ring scotoma, Nyctalopia, Retinal pigment epithelial atr... OMIM:616959
Idiopathic Panuveitis
Photophobia, Blindness, Cystoid macular edema, Reduced visual acuity, Blurred vision, Epiretinal ... ORPHA:280921
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Reduced visual acuity, Abnormal best corrected visual acuity test, Periph... ORPHA:137902
Morning Glory Disc Anomaly
Amblyopia, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Sarcosinemia
Optic atrophy, Congenital blindness ORPHA:3129
Night Blindness, Congenital Stationary, Type 1C
Reduced visual acuity, Congenital stationary night blindness, Myopia OMIM:613216
Scheie Syndrome
Retinal degeneration OMIM:607016
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Peripheral demyelination OMIM:200100
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:266500
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Visual impairment, ... ORPHA:96
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Blindness, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Optic atrophy, Visual impairment, Retinal dysplasia, Myopia ORPHA:272
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Blindness, Retinal dystrophy, Iris coloboma, Encephalocele, Visual impairment, Aga... ORPHA:2318
Stickler Syndrome Type 2
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology, Myopia ORPHA:90654
Diencephalic Syndrome
Optic atrophy, Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Papilloma Of Choroid Plexus
Papilledema, Hydrocephalus OMIM:260500
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Blindness, Abnormal autonomic nervous system physiology OMIM:598500
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Agenesis of corpus callosum, Optic atrophy, Septo-optic dysplasia... ORPHA:1528
Enhanced S-Cone Syndrome
Hemeralopia, Nyctalopia, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Blindness OMIM:617914
Congenital Toxoplasmosis
Hydrocephalus, Abnormality of retinal pigmentation, Cognitive impairment, Ventriculomegaly, Intra... ORPHA:858
Pineocytoma
Hydrocephalus, Increased CSF protein, Memory impairment, Cognitive impairment ORPHA:251912
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Reduced visual acuity, Visual impairment, Absent retinal pigment epithelium OMIM:122430
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Iris coloboma, Ventriculomegaly, Macular hypoplasia, Colpocephaly ORPHA:2185
Retinitis Pigmentosa 46
Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of retinal blood vessels... OMIM:612572
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Moderately reduced visual acuity, Iris coloboma, Chorioretinal coloboma, Severe... ORPHA:2921
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor, Constriction of peripheral visual field OMIM:182830
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:270500
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Iris coloboma, Visual impairment, Chorioretinal coloboma ORPHA:1473
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Retinal degeneration, Reduced visual acuity... ORPHA:168491
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Oculocutaneous Albinism Type 1
Photophobia, Reduced visual acuity, Abnormality of visual evoked potentials, Hypoplasia of the fo... ORPHA:352731
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Infantile Refsum Disease
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Optic atrophy, Facial pa... ORPHA:772
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Hsd10 Disease, Infantile Type
Retinal degeneration, Rod-cone dystrophy, Visual loss, Optic atrophy, Blindness ORPHA:391428
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma, Cognitive impairment ORPHA:2807
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Rod-cone dystrophy, Retinal coloboma, Hypogonadism, Obesity OMIM:601794
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Congenital stationary night blindness, Visual impairment OMIM:300071
Microspherophakia With Hernia
Retinal detachment, Myopia OMIM:157150
Joubert Syndrome 6
Blindness, Retinal degeneration, Chorioretinal coloboma OMIM:610688
Cataract 21, Multiple Types
Iris coloboma, Retinal detachment, Macular hypoplasia OMIM:610202
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Failure to thrive, Intrauterine growth retardation, Hydrocephalus, Self-injurious behavior, Short... OMIM:619833
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Jalili Syndrome
Photophobia, Abnormality of retinal pigmentation, Color vision defect, Optic atrophy, Visual impa... ORPHA:1873
Canavan Disease
Optic atrophy, Blindness, Visual impairment OMIM:271900
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Slow decrease in visual acuity, Color vision defect, Decreased motor nerve conduction velocity, A... OMIM:601152
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Attenuation of retinal blood vessels, Severely reduced visual ac... OMIM:613826
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Renal Coloboma Syndrome
Retinal coloboma, Optic disc coloboma, Optic nerve dysplasia, Visual impairment, Myopia ORPHA:1475
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials, Amblyopia OMIM:617523
Stickler Syndrome, Type V
High myopia, Retinal detachment, Vitreoretinopathy OMIM:614284
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Cerebellar gliosis, Abnormality of visual evoked po... ORPHA:35069
Birdshot Chorioretinopathy
Vitritis, Visual impairment, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Amaurosis-Hypertrichosis Syndrome
Photophobia, High hypermetropia, Cone/cone-rod dystrophy, Retinal dystrophy, Optic atrophy, Visua... ORPHA:1021
Axial Spondylometaphyseal Dysplasia
Photophobia, Rod-cone dystrophy, Peripheral retinal degeneration, Reduced visual acuity, Retinal ... ORPHA:168549
Aland Island Eye Disease
Hypoplasia of the fovea, Myopia, Severely reduced visual acuity OMIM:300600
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials, Retinal degeneration, Orthostatic hypotension, P... ORPHA:2822
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Abnormality of vision, Retinal degeneration ORPHA:442835
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Blindness, Facial paralysis, Optic atrophy, Facial palsy, Visual impairment OMIM:259700
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Reduced visual acuity, Rod-cone dystrophy OMIM:619082
Neurofibromatosis Type 2
Hydrocephalus, Remnants of the hyaloid vascular system, Neuroma, Diplopia, Bilateral vestibular s... ORPHA:637
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Visual field defect, Reduced visual acuity, Optic atrophy, Optic disc pallor, Cerebral visual imp... OMIM:615722
Cancer-Associated Retinopathy
Photophobia, Progressive visual field defects, Granular macular appearance, Constriction of perip... ORPHA:71505
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Retinal detachment, Coloboma, Ventriculomegaly, Agenesis of corpus callosum, Dandy... OMIM:613153
Joubert Syndrome 16
Encephalocele, Retinal dystrophy, Coloboma OMIM:614465
Methanol Poisoning
Blindness, Visual impairment, Blurred vision, Abnormality of the optic nerve ORPHA:31825
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Morning glory anomaly, Reduced visual acuity, Optic nerv... OMIM:165550
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Visual field defect, Abnormality of pattern visual evoked potentials, Retinal degeneration, Rod-c... ORPHA:166035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Blindness, Optic nerve hypoplasia, Retinal detachment, Agenesis of corpus callosum... OMIM:236670
Norrie Disease
Retinal detachment, Optic atrophy, Retinal fold, Blindness, Retinal dysplasia OMIM:310600
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Hypermetropia, Reduced visual acuity OMIM:616680
Cohen Syndrome
Bull's eye maculopathy, Nyctalopia, Reduced visual acuity, Optic atrophy, Bone spicule pigmentati... OMIM:216550
Aceruloplasminemia
Retinal degeneration OMIM:604290
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Reduced visual acuity, Iris coloboma, Optic disc coloboma OMIM:216820
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Multiple Sulfatase Deficiency
Hydrocephalus, Retinal degeneration, Peripheral demyelination OMIM:272200
Retinal Dystrophy With Or Without Extraocular Anomalies
Reduced visual acuity, Retinal dystrophy OMIM:617175
Pantothenate Kinase-Associated Neurodegeneration
Visual field defect, Blindness, Retinal degeneration, Rod-cone dystrophy, Nyctalopia, Pigmentary ... ORPHA:157850
Usher Syndrome
Visual field defect, Abnormality of retinal pigmentation, High hypermetropia, Nyctalopia, Visual ... ORPHA:886
Juvenile Glaucoma
Optic neuropathy, Glaucomatous visual field defect, Increased cup-to-disc ratio, Temporal optic d... ORPHA:98977
Leukoencephalopathy With Ataxia
Optic neuropathy, Visual field defect, Abnormal chorioretinal morphology OMIM:615651
Knobloch Syndrome
Hydrocephalus, Macular degeneration, Retinal detachment, Vitreoretinopathy, Visual loss, Abnormal... ORPHA:1571
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Nyctalopia, Rod-cone dystrophy, Axonal degeneration, Pigmentary retinopathy, Visual loss, Bone sp... ORPHA:88628
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blindness, Pigmentary retinopathy OMIM:560000
Myopia 28, Autosomal Recessive
High myopia, Retinal detachment OMIM:619781
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Spinocerebellar Ataxia Type 7
Photophobia, Hemeralopia, Macular degeneration, Reduced visual acuity, Cone/cone-rod dystrophy, V... ORPHA:94147
Mohr-Tranebjaerg Syndrome
Photophobia, Absent brainstem auditory responses, Color vision defect, Abnormality of visual evok... ORPHA:52368
Refsum Disease
Abnormality of retinal pigmentation, Nyctalopia, Retinopathy, Abnormality of vision, Progressive ... ORPHA:773
Isolated Succinate-Coq Reductase Deficiency
Reduced visual acuity, Blindness, Pigmentary retinopathy ORPHA:3208
Joubert Syndrome 14
Hydrocephalus, Dandy-Walker malformation, Morning glory anomaly, Coloboma, Growth delay, Encephal... OMIM:614424
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Lateral ventricle dilatation, Blindness ORPHA:3078
Madras Motor Neuron Disease
Optic atrophy, Reduced visual acuity, Facial palsy, Visual impairment ORPHA:137867
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Oculocutaneous Albinism Type 5
Photophobia, Ocular albinism, Reduced visual acuity, Hypoplasia of the fovea, Abnormal fundus mor... ORPHA:370091
Oculocutaneous Albinism Type 4
Photophobia, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acuity, Hypopla... ORPHA:79435
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Short stature, Aggressive behavior, Delayed puberty, Obesity OMIM:614963
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Hydrocephalus, Occipital encephalocele ORPHA:352682
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Aica-Ribosuria Due To Atic Deficiency
Optic atrophy, Congenital blindness OMIM:608688
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Albinism, Oculocutaneous, Type Ii
Reduced visual acuity, Hypoplasia of the fovea, Visual impairment, Myopia, Hypopigmentation of th... OMIM:203200
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Diplopia ORPHA:284289
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Hydrocephalus, Chorioretinal coloboma ORPHA:163961
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Coach Syndrome 2
Coloboma, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma OMIM:619111
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Ectopia Lentis Et Pupillae
High myopia, Retinal detachment OMIM:225200
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration, Peripheral visual field loss ORPHA:79244
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Reduced visual acuity, Hyaloid vascular remnant and retr... ORPHA:91495
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness, Retinal dystrophy ORPHA:713
Stickler Syndrome, Type I
Membranous vitreous appearance, Retinal detachment, Vitreoretinopathy, Retinal hole, Blindness, M... OMIM:108300
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Visual los... OMIM:256600
Joubert Syndrome 35
Progressive visual loss, Nyctalopia, Rod-cone dystrophy OMIM:618161
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Congenital blindness, Retinal dystrophy OMIM:263100
Senior-Loken Syndrome 4
Amblyopia, Rod-cone dystrophy, Severely reduced visual acuity OMIM:606996
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Hypermetropia, Reduced visual acuity, Retinal detachment, Optic atrophy, Retinal fold, Chorioreti... OMIM:152950
Aniridia 2
Optic atrophy, Iris coloboma, Aniridia, Amblyopia OMIM:617141
Lethal Ataxia With Deafness And Optic Atrophy
Blindness, Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of somatosensory... ORPHA:1187
Joubert Syndrome 22
Retinal dysplasia, Coloboma OMIM:615665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Hydrocephalus, Retinal degeneration, Enlarged flash visual evoked poten... OMIM:253280
Pettigrew Syndrome
Hydrocephalus, Self-injurious behavior, Flexion contracture, Ventriculomegaly, Dandy-Walker malfo... OMIM:304340
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Nyctalopia, Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion, Periphe... OMIM:250410
Pseudoxanthoma Elasticum
Retinal peau d'orange, Macular degeneration, Reduced visual acuity, Retinal hemorrhage, Optic dis... OMIM:264800
Microphthalmia, Isolated, With Coloboma 9
Reduced visual acuity, Iris coloboma, Retinal detachment, Visual impairment OMIM:615145
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Myopia ORPHA:2971
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Iris coloboma, ... ORPHA:448237
Friedreich Ataxia
Visual field defect, Decreased sensory nerve conduction velocity, Reduced visual acuity, Abnormal... OMIM:229300
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Blindness, Facial paralysis, Cranial nerve compression OMIM:259710
Congenital Primary Aphakia
Abnormality of vision, Retinal dysplasia ORPHA:83461
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum, Short stature OMIM:303350
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Delayed social development, Agenesis of c... OMIM:619302
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Memory impairment ORPHA:1008
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Lowry-Wood Syndrome