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Gene: Cnga1 MGI:88436

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Gene Summary

Name:
cyclic nucleotide gated channel alpha 1
Synonyms:
Cncg

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

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Viewing: all phenotypes

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 Cnga1 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.

The table below shows human diseases associated to Cnga1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Peripheral visual field loss, Reduced visual acuity, Bone s... OMIM:613756
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Peripheral visual field loss, Abnormality of... ORPHA:791

The table below shows human diseases predicted to be associated to Cnga1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Macular Dystrophy, Retinal, 2
Dyschromatopsia, Central scotoma, Reduced visual acuity, Granular macular appearance, Macular dys... OMIM:608051
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Dyschromatopsia, Peripheral retinal atrophy, Central scotoma... OMIM:136550
Cone-Rod Dystrophy 7
Color vision defect, Bull's eye maculopathy, Retinal flecks, Cone/cone-rod dystrophy, Macular atr... OMIM:603649
Late-Onset Retinal Degeneration
Choroidal neovascularization, Scotoma, Visual loss, Retinopathy, Retinal degeneration, Chorioreti... OMIM:605670
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular dystrophy, Macular atrophy, Visual impairment OMIM:600110
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Subretinal fluid, Reduced visual acuity, Macular dystrophy, Visual ... OMIM:153700
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Progressive visual loss, Drusen, Macular scar OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Visual impairment, Rod-cone dystrophy OMIM:613827
Retinitis Pigmentosa 42
Peripapillary atrophy, Cystoid macular edema, Reduced visual acuity, Rod-cone dystrophy, Perifove... OMIM:612943
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy OMIM:617111
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Hypopigmentation of the fundus, Retinal pigment epithelial mottli... ORPHA:75377
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Color vision defect, Metamorphopsia, Choroideremia, Visual field de... ORPHA:1243
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration, Reduced visual acuity OMIM:616118
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Visual impairment, Retinal degeneration OMIM:618513
Retinal Cone Dystrophy 1
Color vision defect, Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy, Progr... OMIM:180020
Bothnia Retinal Dystrophy
Color vision defect, Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mot... ORPHA:85128
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Constriction of peripheral visual field, Atte... OMIM:613750
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Retinopathy, Retinal atr... OMIM:180210
Retinitis Pigmentosa 31
Visual field defect, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Ro... OMIM:609923
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... OMIM:600138
Macular Degeneration, Atrophic, X-Linked
Reduced visual acuity, Macular degeneration OMIM:300834
Bietti Crystalline Dystrophy
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... ORPHA:41751
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Retinitis Pigmentosa 73
Color vision defect, Constriction of peripheral visual field, Epiretinal membrane, Peripapillary ... OMIM:616544
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Optic Atrophy 6
Optic atrophy, Retinal degeneration, Red-green dyschromatopsia, Visual impairment, Photophobia OMIM:258500
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Photophobia, Hyperautofluorescent macular lesion, Attenuation... OMIM:619531
Retinitis Pigmentosa 70
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... OMIM:615922
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Reduced visual acuity, Drusen, Pattern dystrophy of the retina OMIM:608970
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Blindness, Choriocapillaris atrophy, Reduced visual acuity, Subretinal depo... OMIM:601553
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Blindness, Progressive visual loss, Bone spicule pigmentati... OMIM:617781
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Visual field defect, Ret... OMIM:613731
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Blindness, Rod-cone dystrophy OMIM:612165
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:615725
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Cone-Rod Dystrophy 5
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... OMIM:600977
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Pericentral scotoma, Par... OMIM:609021
Optic Atrophy 9
Optic atrophy, Reduced visual acuity, Red-green dyschromatopsia, Paracentral scotoma, Optic disc ... OMIM:616289
Cone-Rod Dystrophy 13
Color vision defect, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual acuity, Photop... OMIM:608194
Macular Dystrophy, Vitelliform, 5
Vitelliform-like macular lesions, Central scotoma, Moderately reduced visual acuity, Reduced visu... OMIM:616152
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Persistent Placoid Maculopathy
Choroidal neovascularization, Scintillating scotoma, Retinal pigment epithelial mottling, Abnorma... ORPHA:97341
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:612712
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration, Reduced visual ... OMIM:617879
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy, Chorioretinal atrophy OMIM:136900
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels OMIM:165510
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:613758
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Ring scotoma, Reduced visual acuity, Bone spicule ... OMIM:607476
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Visual field defect, Reduced visual... OMIM:614181
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Color vision defect, Choroidal neovascularization, Metamorphops... OMIM:608161
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, B... OMIM:610951
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:617871
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Fundus atrophy, Bone spicule pigmentation of the retina, Ro... OMIM:613428
Usher Syndrome, Type Iv
Constriction of peripheral visual field, Hyperautofluorescent macular lesion, Retinal degeneratio... OMIM:618144
Macular Dystrophy, Vitelliform, 4
Vitelliform-like macular lesions, Moderately reduced visual acuity, Macular dystrophy, Drusen OMIM:616151
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Severely reduced visual acuity, Rod-cone dystrophy ORPHA:3011
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Optic disc pallor,... OMIM:601718
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:619007
Leber Congenital Amaurosis 4
Blindness, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Reduced visual acuity, ... OMIM:604393
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Nyctalopia, Rod-co... OMIM:614180
Cone-Rod Dystrophy 11
Slow decrease in visual acuity, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystr... OMIM:610381
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Constriction of peripheral visual field, P... OMIM:617123
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Retinal degeneration, Increased extraneuronal autofluorescent lipopigment, Prog... OMIM:204500
Macular Dystrophy, Patterned, 1
Dark choroid, Choroidal neovascularization, Pattern dystrophy of the retina, Metamorphopsia, Yell... OMIM:169150
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachment, Blindn... ORPHA:90050
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Constriction of peripheral visual field, Progressive visual loss, Rod... OMIM:613862
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... OMIM:613660
Retinitis Pigmentosa 7
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:608133
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Progressive visual loss, Nyctalopia, ... ORPHA:180
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Reduc... OMIM:614500
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:610189
Cone-Rod Dystrophy 21
Reduced visual acuity, Nyctalopia, Macular atrophy, Photophobia, Retinal dystrophy OMIM:616502
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Constriction of peripheral visual field, Retinal degeneration, Hype... OMIM:267760
Cone Dystrophy 3
Cone/cone-rod dystrophy, Reduced visual acuity, Progressive visual loss, Macular atrophy, Photoph... OMIM:602093
Retinitis Pigmentosa 63
Optic disc pallor, Blurred vision, Rod-cone dystrophy, Nyctalopia OMIM:614494
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Reduced visual acuity, Moderate myopia, Congenital stationary night blindness, Abnormal fundus mo... OMIM:163500
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Reduced visual acuity, Retinal detachment, ... OMIM:613194
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Pho... OMIM:600852
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Nyctalopia, Optic di... OMIM:616394
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1
Central retinal vessel vascular tortuosity, Central scotoma, Reduced visual acuity, Retinal nerve... OMIM:619382
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v... OMIM:180100
Retinitis Pigmentosa 9
Macular edema, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, ... OMIM:180104
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Blindness, Retinopathy, Rod-cone dystrophy, Corticospinal tr... OMIM:551500
Retinitis Pigmentosa 69
Pigmentary retinopathy, Constriction of peripheral visual field, Perifoveal hypoautofluorescence,... OMIM:615780
Stargardt Disease
Color vision defect, Abnormality of macular pigmentation, Macular degeneration, Retinal pigment e... ORPHA:827
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Visual field defect, Reduced visual acuity, Macular dystrophy, ... OMIM:153840
Morm Syndrome
Retinal atrophy, Visual impairment, Retinal dystrophy, Progressive night blindness ORPHA:75858
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617460
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment ORPHA:1872
Retinitis Pigmentosa 35
Nyctalopia, Reduced visual acuity, Blindness, Rod-cone dystrophy OMIM:610282
Retinitis Pigmentosa 78
Cystoid macular edema, Visual field defect, Reduced visual acuity, Nyctalopia, Photopsia, Optic d... OMIM:617433
Achromatopsia 7
Central scotoma, Hypoplasia of the fovea, Reduced visual acuity, Achromatopsia, Macular atrophy, ... OMIM:616517
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:600059
Retinitis Pigmentosa 40
Nyctalopia, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-co... OMIM:613801
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Cone-Rod Dystrophy 12
Color vision defect, Bull's eye maculopathy, Central scotoma, Cone/cone-rod dystrophy, Reduced vi... OMIM:612657
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Cerebral atrophy, Blindness, Retinal degeneration, Increased... OMIM:204200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinitis Pigmentosa 20
Visual impairment, Attenuation of retinal blood vessels, Nyctalopia, Rod-cone dystrophy, Severely... OMIM:613794
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Reduced visual acuity, F... OMIM:204100
Retinitis Pigmentosa 57
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:613582
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Central scotoma, Reduced visual acuity, Nyctalopia, Optic disc pallor, Photophobia, Retinal dystr... OMIM:616079
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Reduced visual... OMIM:618826
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy, Blindness, Severely reduced visual acuity OMIM:309555
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Reduced visual acuity,... OMIM:616188
Macular Dystrophy, Retinal, 3
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Reduced visual acuity,... OMIM:608850
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Visual acuity no light perception, Bone spicule pigmentatio... OMIM:618220
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, Rod... OMIM:606068
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Retinitis Pigmentosa 18
Retinal arteriolar constriction, Scotoma, Nyctalopia, Rod-cone dystrophy, Progressive visual fiel... OMIM:601414
Congenital Stationary Night Blindness
Color vision defect, Retinal thinning, Congenital stationary night blindness with abnormal fundus... ORPHA:215
Retinitis Pigmentosa 92
Pigmentary retinopathy, Constriction of peripheral visual field, Paracentral scotoma, Nyctalopia,... OMIM:619614
Retinitis Pigmentosa 2
Pigmentary retinopathy, Constriction of peripheral visual field, Bull's eye maculopathy, High myo... OMIM:312600
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... OMIM:300029
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal ... OMIM:605750
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Visual impairment, Tractional retinal detachment, R... OMIM:613310
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Choroidal neovascularization, Reduced visual acuity, Nycta... OMIM:619977
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Leber Congenital Amaurosis 9
Optic atrophy, Color vision defect, Retinal pigment epithelial mottling, Ultra-low vision, Attenu... OMIM:608553
Ophthalmoplegia, External, And Myopia
Myopia, Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinal Cone Dystrophy 3B
Scotoma, Cone/cone-rod dystrophy, Reduced visual acuity, Nyctalopia, Macular atrophy, Myopia, Pho... OMIM:610356
Retinitis Pigmentosa 85
Reduced visual acuity, Rod-cone dystrophy, Progressive night blindness OMIM:618345
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Visual impairment, Abnormality of retina... ORPHA:1852
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor, Color vision defect, Reduced visual acuity OMIM:618511
Retinitis Pigmentosa 96
Retinal thinning, Constriction of peripheral visual field, Reduced visual acuity, Bone spicule pi... OMIM:620228
Retinitis Pigmentosa 95
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:620102
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy, Myopia, Visual impairment ORPHA:75373
Retinitis Pigmentosa 77
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:617304
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Visual impairment, Peripheral retinal atrophy, Reduced visual acuity, Nyctalopia, Tritanomaly, Ab... OMIM:615147
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Visual field defect, Bone spicule pigmentation of the retin... OMIM:613809
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Cerebral atrophy, Blindness, Retinal degeneration, Progressi... OMIM:256730
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Dyschromatopsia, Central retinal exudate, Progressive visual los... OMIM:264420
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Diplopia, Rod-cone dystrophy, Myopia, Visual impairment, ... ORPHA:75382
Cavitary Optic Disc Anomalies
Visual field defect, Reduced visual acuity, Peripapillary atrophy, Nyctalopia OMIM:611543
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Leber Congenital Amaurosis 14
Congenital blindness, Reduced visual acuity, Rod-cone dystrophy, Nyctalopia, Optic disc pallor, P... OMIM:613341
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, High myopia, Central scotoma, Reduced visual acuity, Red-green dyschromat... OMIM:616170
Retinitis Pigmentosa 6
Pigmentary retinopathy, Constriction of peripheral visual field, Chorioretinal degeneration, Nyct... OMIM:312612
Usher Syndrome, Type Iiia
Visual field defect, Nyctalopia, Reduced visual acuity, Rod-cone dystrophy OMIM:276902
Usher Syndrome, Type Iid
Nyctalopia, Rod-cone dystrophy OMIM:611383
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Subretinal exudate, Epiretinal membrane, Blindness... ORPHA:71213
Tritanopia
Reduced visual acuity, Abnormal retinal morphology, Color vision test abnormality, Tritanomaly, P... ORPHA:88629
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:600105
Optic Atrophy 3, Autosomal Dominant
Scotoma, Optic atrophy, Optic disc pallor, Reduced visual acuity OMIM:165300
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Constriction of peripheral visual field, Cone/cone-rod dystr... OMIM:610478
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Severely reduced visual acuity, Epiretinal me... ORPHA:891
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Visual impairment, Chorioretinal dysplasia OMIM:616335
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Reduced visual acuity, Amblyopia, Retinal pigment epithelial mott... OMIM:300814
Cone Dystrophy 4
Visual impairment, Dyschromatopsia, Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, ... OMIM:613093
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Vitreous floaters, Retinal detachment, Mildly reduced visual acuity, Peripheral vitr... OMIM:614292
Optic Atrophy 16
Color vision defect, Visual loss, Central scotoma, Reduced visual acuity, Mildly reduced visual a... OMIM:620629
Retinitis Pigmentosa
Nyctalopia, Constriction of peripheral visual field, Abnormality of fundus pigmentation, Rod-cone... OMIM:268000
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, B... OMIM:193235
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Constriction of peripheral visual field, B... OMIM:617406
Optic Atrophy 12
Optic atrophy, Dyschromatopsia, Reduced visual acuity, Abnormal Ishihara plate test, Optic disc p... OMIM:618977
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Reduced visual acuity, F... OMIM:204000
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Abnormality of macular pigmentation, Visual impairment, Central scotoma, Con... OMIM:300476
Fleck Retina, Familial Benign
Nyctalopia, Visual impairment, Retinal flecks OMIM:228980
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Blind... OMIM:133780
Prolonged Electroretinal Response Suppression 2
Difficulty adjusting to changes in luminance, Abnormal fundus morphology, Reduced visual acuity, ... OMIM:620344
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar vermis atrophy, Optic atrophy, Cerebellar atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone sp... OMIM:613617
Fundus Albipunctatus
Nyctalopia, Fundus albipunctatus, Retinal flecks OMIM:136880
Retinitis Pigmentosa 51
Macular degeneration, High myopia, Attenuation of retinal blood vessels, Reduced visual acuity, B... OMIM:613464
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Leber Congenital Amaurosis 16
Visual field defect, Reduced visual acuity, Nyctalopia, Optic disc pallor, Visual impairment, Pho... OMIM:614186
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Blurred vision, Vit... ORPHA:209943
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, High myopia, Central scotoma, Cone/cone-rod dystrophy, R... OMIM:615973
Retinitis Pigmentosa 10
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Bull's eye maculop... OMIM:180105
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Peripheral vi... OMIM:612095
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Blindness... OMIM:605549
Optic Atrophy 15
Optic atrophy, Dyschromatopsia, Central scotoma, Reduced visual acuity, Optic disc pallor, Photop... OMIM:620583
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Blind-spot enl... ORPHA:179
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Blind-spot enlargment, Reduced visual acuity, Optic disc pallor, Severely reduced ... OMIM:614296
Retinitis Pigmentosa 83
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:618173
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Chorioretinal dystrophy, Retinal detachment, Myopia, Visual impairment OMIM:600790
Usher Syndrome, Type 1M
Optic disc pallor, Nyctalopia, Drusen OMIM:618632
Blue Cone Monochromacy
Abnormality of macular pigmentation, Visual impairment, Reduced visual acuity, Myopia, Blue cone ... OMIM:303700
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Bardet-Biedl Syndrome 16
Reduced visual acuity, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Acute Zonal Occult Outer Retinopathy
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Rod-con... ORPHA:284454
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Peripheral visual field loss, Reduced visual acuity, Bone s... OMIM:613756
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Peripheral visual ... OMIM:613983
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Metamorphopsia, Blurred vision, Visual field defe... ORPHA:209956
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Retinal degeneration, Progressive visual loss, Inc... OMIM:256731
Retinitis Pigmentosa 23
Color vision defect, Severely reduced visual acuity, Constriction of peripheral visual field, Att... OMIM:300424
Jalili Syndrome
Visual impairment, Retinal pigment epithelial mottling, Scotoma, Attenuation of retinal blood ves... OMIM:217080
Retinitis Pigmentosa 45
Macular degeneration, Peripheral visual field loss, Bone spicule pigmentation of the retina, Nyct... OMIM:613767
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Bone spicule pig... OMIM:615233
Night Blindness, Congenital Stationary, Type 1F
High myopia, Retinal perforation, Reduced visual acuity, Nyctalopia, Congenital stationary night ... OMIM:615058
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Abnormal optic nerve morphology, Attenuation of retinal blood vessels, Abnormal fundus morphology... ORPHA:436274
Narp Syndrome
Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Co... ORPHA:644
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Chorioretinal atrophy, Progressive night bl... OMIM:210370
Grouped Pigmentation Of The Retina
Metamorphopsia, Abnormality of retinal pigmentation OMIM:233800
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Cleft Lip-Retinopathy Syndrome
Retinopathy, Visual impairment, Abnormality of retinal pigmentation ORPHA:1995
Cone-Rod Dystrophy 10
Macular degeneration, Peripheral visual field loss, Attenuation of retinal blood vessels, Bone sp... OMIM:610283
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Cone-Rod Dystrophy 6
Dyschromatopsia, Attenuation of retinal blood vessels, Peripheral visual field loss, Chorioretina... OMIM:601777
Retinal Cone Dystrophy 3A
Dyschromatopsia, High myopia, Cone dystrophy, Reduced visual acuity, Nyctalopia, Photophobia OMIM:610024
Vitreoretinochoroidopathy
Color vision defect, Pigmentary retinopathy, Retinal arteriolar constriction, Dyschromatopsia, Ab... OMIM:193220
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Constriction of peripheral visual field, Re... OMIM:611131
Cone-Rod Dystrophy 18
Foveal hyperpigmentation, High myopia, Central scotoma, Cone/cone-rod dystrophy, Reduced visual a... OMIM:615374
Retinitis Pigmentosa 25
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Chorioretinal atro... OMIM:602772
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Retinitis Pigmentosa 72
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Foveoschisis, Blindness, Chorioretinal atrophy, Nyctalopia, Myopia, Visual im... OMIM:258870
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Color vision defect, Retinal nonattachment, Abnormality of visi... ORPHA:99000
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal best... ORPHA:67042
Retinitis Pigmentosa 93
Constriction of peripheral visual field, Reduced visual acuity, Retinal dots, Rod-cone dystrophy OMIM:619845
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Constriction of peripheral visual field, Reduced visual acuity, ... OMIM:600132
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Myopia, Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness, Retinal detachment ORPHA:436182
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Visual field defect, Optic disc pal... OMIM:613581
Progressive Cone Dystrophy
Photophobia, Color vision defect, Visual impairment, Abnormality of retinal pigmentation ORPHA:1871
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Color vision defect, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Optic disc pa... OMIM:616732
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Reduced visual... OMIM:618195
Nanophthalmos 4
Optic disc drusen, Reduced visual acuity, Hypermetropia OMIM:615972
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone ... OMIM:613810
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Severe Early-Childhood-Onset Retinal Dystrophy
Reduced visual acuity, Retinal detachment, Retinal pigment epithelial atrophy, Optic disc pallor,... ORPHA:364055
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal atrophy, Choroideremia, Progressive visual... OMIM:303110
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Night Blindness, Congenital Stationary, Type 1G
Constriction of peripheral visual field, Rod-cone dystrophy, Optic disc pallor, Visual impairment... OMIM:616389
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Nyctalopia, Reduced visual acuity, Retinal dystrophy OMIM:610156
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral atrophy OMIM:618770
Leber Congenital Amaurosis 15
Color vision defect, Pigmentary retinopathy, Photophobia, Constriction of peripheral visual field... OMIM:613843
Mucolipidosis Iv
Optic atrophy, Cerebellar atrophy, Retinal degeneration, Photophobia, Visual impairment OMIM:252650
Retinitis Pigmentosa 97
Macular degeneration, Reduced visual acuity, Amblyopia, Nyctalopia, Rod-cone dystrophy OMIM:620422
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Blindness, Abnormal optic disc morphology, Reduce... ORPHA:440727
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Constriction of peripheral visual field, Blindness, Chorioretinal at... ORPHA:414
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Dyschromatopsia, Retinal atrophy, Photophobia, Visual impairment, Hemeralopia OMIM:617236
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Amblyopia, Myopia, Retinal dystrophy OMIM:615960
Nephronophthisis 14
Retinal degeneration OMIM:614844
Optic Atrophy 14
Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity OMIM:620550
Cone-Rod Dystrophy 19
Reduced visual acuity, High myopia, Perifoveal ring of hyperautofluorescence, Cone/cone-rod dystr... OMIM:615860
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal pigment epithelial mottling, Peripheral retinal atrophy, Retinal thinning, Attenuation of... OMIM:145350
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Reduced visual acuity, Photophobia, Retinal thinning OMIM:618970
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral visual impairment, Retinal vascular tortuosity OMIM:618768
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, H... OMIM:619649
Åland Islands Eye Disease
Color vision defect, Hypopigmentation of the fundus, Hypoplasia of the fovea, Reduced visual acui... ORPHA:178333
Hsd10 Mitochondrial Disease
Optic atrophy, Visual loss, Cerebral cortical atrophy, Retinal degeneration OMIM:300438
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Reduced visual acuity, Retinal pigment epithelial mot... ORPHA:506353
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Peripheral visual field loss, Bone spicule pigmentation of ... OMIM:617023
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration, Progressive visual loss OMIM:164500
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration, Blindness ORPHA:1573
Bornholm Eye Disease
Protanopia, High myopia, Abnormality of retinal pigmentation, Amblyopia, Deuteranopia, Optic nerv... OMIM:300843
Sjogren-Larsson Syndrome
Color vision defect, Macular degeneration, Retinal thinning, Macular dots, Reduced visual acuity,... OMIM:270200
Canavan Disease
Optic atrophy, Blindness, Visual impairment, Abnormality of retinal pigmentation ORPHA:141
Bardet-Biedl Syndrome 3
Nyctalopia, Pigmentary retinopathy, Visual impairment, Rod-cone dystrophy OMIM:600151
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Peripheral visual field loss, Abnormality of... ORPHA:791
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Moderate myopia, Constriction of peripheral visual field, ... OMIM:300578
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Dyschromatopsia, Constriction of peripheral visual field, Central scotoma, Reduced... OMIM:612989
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Blindness, Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Bardet-Biedl Syndrome 5
Reduced visual acuity, Macular dystrophy, Rod-cone dystrophy OMIM:615983
Sandhoff Disease
Blindness, Cherry red spot of the macula ORPHA:796
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Visual loss, Retinopathy, Abnormal poste... ORPHA:94058
Optic Atrophy 1
Optic atrophy, Centrocecal scotoma, Central scotoma, Reduced visual acuity, Red-green dyschromato... OMIM:165500
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Central scotoma, Reduc... OMIM:617547
Oculocutaneous Albinism Type 6
Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Reduced visual acuity, Pho... ORPHA:370097
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Color vision defect, Decreased nerve conduction velocity, Central scotoma, Reduced... ORPHA:98890
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment OMIM:113750
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Visual loss... OMIM:610127
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Blindness, Retinopathy ORPHA:216873
Optic Pathway Glioma
Optic atrophy, Blindness, Visual loss, Visual field defect, Reduced visual acuity, Papilledema ORPHA:2086
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Macular degeneration, Retinal degeneration, Degeneration of the latera... OMIM:604360
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, High hypermetropia, At... OMIM:619260
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Nyctalopia, Myopia, Hemeralopia, Congenital stationary n... OMIM:257270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Myopia, Blindness, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Retinitis Pigmentosa 59
Constriction of peripheral visual field, Cystoid macular edema, Reduced visual acuity, Nyctalopia... OMIM:613861
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Amblyopia, Hypermetropia, Myopia, Retinal dystrophy ORPHA:370022
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis, Nyctalopia, Hemeralopia OMIM:268100
Birdshot Chorioretinopathy
Vitreous floaters, Retinal pigment epithelial atrophy, Visual impairment, Abnormal chorioretinal ... OMIM:605808
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Bone spic... OMIM:609033
Achromatopsia 2
Retinal thinning, Dull foveal reflex, Peripapillary atrophy, Hypoplasia of the fovea, Reduced vis... OMIM:216900
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Aland Island Eye Disease
Hypopigmentation of the fundus, Protanopia, Hypoplasia of the fovea, Myopia, Severely reduced vis... OMIM:300600
Cone-Rod Dystrophy 3
Color vision defect, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye mac... OMIM:604116
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Blindness, Visual loss, Retinal deg... ORPHA:79264
Spastic Paraplegia 15, Autosomal Recessive
Reduced visual acuity, Macular degeneration, Visual impairment, Retinal degeneration OMIM:270700
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Myopia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Nyctalopia ORPHA:1390
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Retinopathy, Macular atrophy, Optic disc pal... OMIM:616171
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, High myopia, Visual impairment, Congenital stationary night blindness OMIM:614565
Retinitis Pigmentosa 89
Retinal thinning, Constriction of peripheral visual field, Nyctalopia, Rod-cone dystrophy, Hypera... OMIM:618955
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Hypoplastic optic chiasm, Cerebellar vermis atrophy, Blindness... OMIM:210000
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Congenital blindness, Visual acuity light perception with projection... ORPHA:2788
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Visual loss, Cone/cone-rod dystrophy OMIM:249270
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Nyctalopia,... ORPHA:5
Sjögren-Larsson Syndrome
Macular degeneration, Abnormality of retinal pigmentation, Retinopathy, Myopia, Photophobia ORPHA:816
Idiopathic Panuveitis
Choroidal neovascularization, Abnormality of vision, Epiretinal membrane, Blindness, Blurred visi... ORPHA:280921
Severe Canavan Disease
Optic atrophy, Blindness ORPHA:314911
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Moderately reduced visual acuity, Severely reduced visual acuity, Chorioretinal coloboma, Retinal... ORPHA:2921
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypoplasia of the fovea, Reduced visual acuity, Photophobia OMIM:619165
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Dyschromatopsia, Centrocecal scotoma, Central... OMIM:125250
Night Blindness, Congenital Stationary, Type 1C
Myopia, Reduced visual acuity, Congenital stationary night blindness OMIM:613216
Morning Glory Disc Anomaly
Amblyopia, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:300071
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Nephronophthisis 9
Retinal degeneration OMIM:613824
Sarcosinemia
Optic atrophy, Congenital blindness ORPHA:3129
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Myopia, Retinal detachment, Retinopathy ORPHA:90654
Microphthalmia, Isolated 6
Retinal fold, High hypermetropia, Amblyopia OMIM:613517
Foveal Hypoplasia 2
Hypoplasia of the fovea, Foveal hyperpigmentation, Reduced visual acuity, Optic nerve misrouting OMIM:609218
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Blindness, V... ORPHA:391428
Refsum Disease, Classic
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Leber Congenital Amaurosis 6
Photophobia, Attenuation of retinal blood vessels, Severely reduced visual acuity, High hypermetr... OMIM:613826
Ramos-Arroyo Syndrome
Absent retinal pigment epithelium, Reduced visual acuity, Visual impairment OMIM:122430
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Retinal degeneration OMIM:616896
Leukodystrophy, Hypomyelinating, 14
Blindness, Cerebellar atrophy, Cerebral atrophy OMIM:617899
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy OMIM:615434
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Blindness, Abnormal autonomic nervous system physiology OMIM:598500
Bardet-Biedl Syndrome 17
Retinal degeneration, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615994
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Central scotoma OMIM:615035
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Blindness, Rod-cone dystrophy ORPHA:216866
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Choroidal neovascularization, Macular degeneration ORPHA:404451
Choroidal Atrophy-Alopecia Syndrome
Visual impairment, Patchy atrophy of the retinal pigment epithelium, Abnormality of retinal pigme... ORPHA:1433
Retinitis Pigmentosa 46
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:612572
Myopia 28, Autosomal Recessive
High myopia, Retinal detachment OMIM:619781
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Blindness OMIM:603896
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
High myopia, Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Joubert Syndrome 6
Blindness, Chorioretinal coloboma, Retinal degeneration OMIM:610688
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Reduced visual acuity, Rod-cone dystrophy OMIM:619082
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Progressive night blindness, Progressive visual loss, Ro... ORPHA:436245
Infantile Refsum Disease
Optic atrophy, Visual impairment, Constriction of peripheral visual field, Rod-cone dystrophy, Ny... ORPHA:772
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Abnormality of vision, Cerebral atrophy, Retinal degeneration, Brain atrophy ORPHA:442835
Canavan Disease
Optic atrophy, Blindness, Visual impairment, Brain atrophy OMIM:271900
Krabbe Disease
Optic atrophy, Neurodegeneration, Decreased nerve conduction velocity, Blindness, Diffuse cerebra... OMIM:245200
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Peripheral visual field loss, Chorio... OMIM:618697
Spinocerebellar Ataxia Type 7
Macular degeneration, Cerebellar atrophy, Cerebral atrophy, Blindness, Visual loss, Abnormal fund... ORPHA:94147
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Blindness, Visual loss, Progressive visual loss, Visual impairment OMIM:601338
Peroxisome Biogenesis Disorder 9B
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Rod-cone dystrophy OMIM:614879
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Cerebral atrophy, Blindness, Visual loss, Retinal degeneration, Reduced visua... ORPHA:168491
Usher Syndrome
Cerebral cortical atrophy, High hypermetropia, Blindness, Abnormality of retinal pigmentation, Vi... ORPHA:886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Reduced visual acuity, Visual impairment, Retinal degeneration OMIM:615249
Aceruloplasminemia
Retinal degeneration OMIM:604290
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Chorioretinal coloboma, Reduced visual acuity, Macular atrophy, Myopia OMIM:602499
Leber Congenital Amaurosis
Abnormal optic disc morphology, Severely reduced visual acuity, Abnormality of retinal pigmentation ORPHA:65
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy, Optic atrophy, Dyschromatopsia, Foveal hyporeflective spaces on macul... ORPHA:71505
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Retinal degeneration OMIM:615630
Ataxia With Vitamin E Deficiency
Visual impairment, Abnormality of retinal pigmentation, Nyctalopia ORPHA:96
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Peripheral visual field loss, Retinal degeneration ORPHA:79244
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Reduced visual acuity, Remnants of the hyaloid vascular system, Visual impai... OMIM:165550
Retinal Dystrophy With Or Without Extraocular Anomalies
Reduced visual acuity, Retinal dystrophy OMIM:617175
Norrie Disease
Optic atrophy, Blindness, Retinal detachment, Retinal fold, Retinal dysplasia OMIM:310600
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Pigmentary retinopathy, Bull's eye maculopathy, Pallidal degeneration, Peripheral ... ORPHA:157850
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Diplopia, Macular degeneration, Cerebellar atrophy ORPHA:284289
Oculocutaneous Albinism Type 5
Ocular albinism, Abnormal fundus morphology, Hypoplasia of the fovea, Reduced visual acuity, Phot... ORPHA:370091
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Reduced visual acuity, Blindness ORPHA:3208
Retinitis Pigmentosa 74
Pigmentary retinopathy, Constriction of peripheral visual field, Reduced visual acuity, Rod-cone ... OMIM:616562
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Dyschromatopsia, Reduced visual acuity, Amblyopia... ORPHA:168549
Sturge-Weber Syndrome
Optic atrophy, Cerebral cortical atrophy, Abnormality of vision, Blindness, Abnormal choroid morp... ORPHA:3205
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Blindness OMIM:560000
Usher Syndrome Type 1
Cerebral cortical atrophy, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia, Subc... ORPHA:231169
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Madras Motor Neuron Disease
Optic atrophy, Reduced visual acuity, Facial palsy, Visual impairment ORPHA:137867
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Cerebral atrophy, Retinal degeneration OMIM:616211
Oculocutaneous Albinism Type 4
Ocular albinism, Abnormality of retinal pigmentation, Optic nerve misrouting, Hypoplasia of the f... ORPHA:79435
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Visual field defect, Reduced visual acuity, Cerebral visual impairment, Optic disc... OMIM:615722
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Visual loss, Axonal degenerat... ORPHA:88628
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the fundus, Hypoplasia of the fovea, Reduced visual acuity, Myopia, Visual im... OMIM:203200
Methanol Poisoning
Blindness, Visual impairment, Blurred vision, Abnormal optic nerve morphology ORPHA:31825
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Cerebellar atrophy, Reduced visual acuity, Corpus callosum atrophy, Hypermetropia OMIM:616680
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cerebral cortical atrophy, Retinal degeneration, Visual field defect, Nyctalopia, Rod-cone dystrophy ORPHA:166035
Refsum Disease
Abnormality of vision, Abnormality of retinal pigmentation, Retinopathy, Progressive visual loss,... ORPHA:773
Albinism, Ocular, Type I
Ocular albinism, Hypoplasia of the fovea, Reduced visual acuity, Photophobia, Depigmented fundus OMIM:300500
Cach Syndrome
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Blindness, Optic ... ORPHA:135
Senior-Loken Syndrome 4
Severely reduced visual acuity, Amblyopia, Rod-cone dystrophy OMIM:606996
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Myopia, Retinal neovascularization OMIM:619074
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Nyctalopia ORPHA:99947
Albers-Schönberg Osteopetrosis
Optic atrophy, Facial palsy, Visual impairment, Blindness ORPHA:53
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Peripheral visual field loss, Retinal degeneration, Nyctalopi... OMIM:250410
Pseudoxanthoma Elasticum
Choroidal neovascularization, Macular degeneration, Angioid streaks of the fundus, Retinal peau d... OMIM:264800
Isolated Atp Synthase Deficiency
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Blindness, Rod-cone dystrophy ORPHA:254913
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Lowry-Wood Syndrome
Pigmentary retinopathy, Peripheral visual field loss, Nyctalopia OMIM:226960
Scheie Syndrome
Retinal degeneration OMIM:607016
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Chorioretinal dystrophy, Reduced visual acuity, Bone spicu... OMIM:216550
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Blindness, Visual loss, Increase... ORPHA:79263
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Cerebellar atrophy OMIM:619780
Senior-Loken Syndrome 8
Reduced visual acuity, Rod-cone dystrophy, Macular atrophy, Visual impairment, Retinal dystrophy OMIM:616307
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Blindness, Macular ... ORPHA:91495
Coloboma, Ocular, Autosomal Recessive
Reduced visual acuity, Optic disc coloboma, Retinal coloboma OMIM:216820
Stickler Syndrome, Type I
Vitreoretinopathy, Blindness, Membranous vitreous appearance, Retinal detachment, Retinal hole, M... OMIM:108300
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Blindness, Retinal detachment, Myopia, Optic nerve hypoplasia ORPHA:370959
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Abnormal best corrected visual acuity test, Epiretinal membrane, Retinal perf... ORPHA:263479
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Angioid streaks of the fundus, Reduced visual acuity, Retinal hemorrhage, M... OMIM:177850
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Decreased motor nerve conduction velocity, Abnormality of somatosensory evoked pot... ORPHA:1187
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness, Retinal dystrophy ORPHA:713
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Hypermetropia, Nyctalopia, Mild myopia OMIM:617024
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Blindness, Conjunctival telangiectasia ORPHA:95433
Joubert Syndrome 35
Nyctalopia, Progressive visual loss, Rod-cone dystrophy OMIM:618161
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Macular atrophy OMIM:212550
Cataract 11, Multiple Types
Blindness OMIM:610623
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness OMIM:607674
Bardet-Biedl Syndrome 1
Hyperautofluorescent macular lesion, Attenuation of retinal blood vessels, Peripheral visual fiel... OMIM:209900
Combined Oxidative Phosphorylation Deficiency 59
Retinal degeneration OMIM:620646
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Leber Congenital Amaurosis 3
Constriction of peripheral visual field, Visual loss, Nyctalopia OMIM:604232
Intermediate Uveitis
Macular edema, Epiretinal membrane, Vitreous floaters, Cystoid macular edema, Optic neuritis, Red... ORPHA:279914
Primary Angiitis Of The Central Nervous System
Diplopia, Pseudopapilledema, Amaurosis fugax, Blurred vision, Reduced visual acuity, Abnormal vis... ORPHA:140989
Usher Syndrome Type 3
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231183
Microphthalmia/Coloboma 9
Reduced visual acuity, Visual impairment, Retinal detachment, Macular coloboma OMIM:615145
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Reduced visual acuity, Retinal detachment, Chorioretinal lacunae, Hypermetropia, C... OMIM:152950
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Blindness, Brain atrophy ORPHA:3078
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Blindness, Diffuse cerebral atrophy, Corpus callosum atrophy, Atrophy/... ORPHA:77299
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Optic atrophy, Cerebellar atrophy, Blindness, Central scotoma, Diffuse cerebral atrophy, Visual i... ORPHA:543470
Tay-Sachs Disease
Blindness, Cherry red spot of the macula OMIM:272800
Oculocutaneous Albinism Type 1
Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the choroidal vasculature... ORPHA:352731
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Blindness, Facial paralysis, Cranial nerve compression OMIM:259710
Megalocornea
Reduced visual acuity, Retinal detachment OMIM:309300
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebral cortical atrophy, Cerebellar atrophy, High myopia, Nyctalopia, Rod-cone dystrophy, Myopia OMIM:617763
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration OMIM:272200
Momo Syndrome
Blindness, Retinal coloboma OMIM:157980
Nephronophthisis 11
Retinal degeneration OMIM:613550
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Optic disc coloboma, Retinal thinning, Cone/cone-rod dystrop... OMIM:608940
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration OMIM:239000
Cinca Syndrome
Retrobulbar optic neuritis, Pseudopapilledema, Visual impairment, Blindness ORPHA:1451
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic disc hypoplasia, Visual field defect, Reduced visual acuity, Amblyopia, Hype... ORPHA:401777
Cranioectodermal Dysplasia 4
Nyctalopia, Visual impairment, Hypermetropia, Rod-cone dystrophy OMIM:614378
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Blindness, Aganglionic megacolon, Visual impairment, Retinal dystrophy ORPHA:2318
Aniridia 2
Optic atrophy, Amblyopia OMIM:617141
Infantile Neuroaxonal Dystrophy
Optic atrophy, Cerebellar atrophy, Blindness, Abnormality of peripheral nerve conduction, Abnorma... ORPHA:35069
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Reduced visual acuity, Remnants... OMIM:120200
Knobloch Syndrome
Macular degeneration, Vitreoretinopathy, Visual loss, Abnormal vitreous humor morphology, Retinal... ORPHA:1571
Aica-Ribosiduria Due To Atic Deficiency
Optic atrophy, Congenital blindness OMIM:608688
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Constriction of peripheral visual field, Papilledema, Hypermetropia,... OMIM:619471
Joubert Syndrome 30
Reduced visual acuity, Cerebellar atrophy, Retinal dystrophy OMIM:617622
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Optic atrophy, High myopia, Blindness, Cerebral atrophy OMIM:220500
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Visual impairment, Blindness, Facial palsy OMIM:259700
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Retinal degeneration, Frontal cortical atrophy, Atrophy of the spinal ... ORPHA:2822
Cherubism
Marcus Gunn pupil, Constriction of peripheral visual field, Reduced visual acuity, Visual impairm... OMIM:118400
Papillorenal Syndrome
Macular degeneration, Optic disc coloboma, Retinal coloboma, High myopia, Chorioretinal atrophy, ... OMIM:120330
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Visual loss, Abnormal cranial nerve morphology, Abnormal autonomic nervous ... ORPHA:247234
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Opto-chiasmatic atrophy, Neurodegeneration, ... OMIM:615491
Mitochondrial Complex I Deficiency, Nuclear Type 4
Blindness, Brain atrophy OMIM:618225
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Visual loss, Blurred vision, Retinal vasculitis, Retinal detach... OMIM:107320
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Cherry red spot of the... ORPHA:206436
Werner Syndrome
Retinal degeneration OMIM:277700
Microcephaly 20, Primary, Autosomal Recessive
Blindness, Optic nerve hypoplasia OMIM:617914
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy, Corpus callosum atrophy, Parietal cortical atrophy, Cerebellar atrophy ORPHA:412057
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Abnormality of vision, Abnormal optic nerve morphology, Blindness, Visual loss, Re... ORPHA:2526
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Hyperostosis Cranialis Interna
Optic atrophy, Reduced visual acuity, Facial palsy OMIM:144755
Xfe Progeroid Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Visual impairment, Blindness OMIM:610965
Xq21 Microdeletion Syndrome
Optic atrophy, Reticular pigmentary degeneration, Peripheral visual field loss, Choroideremia, Pr... ORPHA:1435
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Cerebellar atrophy, Reduced visual acuity, Cerebral visual impairment, Abnormal au... OMIM:616683
Full Nf2-Related Schwannomatosis
Diplopia, Abnormal optic nerve morphology, Bilateral vestibular schwannoma, Epiretinal membrane, ... ORPHA:637
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Visual field defect, Nyctalopia, Rod-cone dystrophy ORPHA:96180
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Cerebral cortical atrophy, Blindness, Cerebral atrophy OMIM:236270
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Cerebral cortical atrophy, Corpus callosum atrophy, Retinal degeneration OMIM:248500
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, High myopia, Blindness, Macular hypo... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Blindness, Retinal atrophy, Retinal detachment, Myopia, Retinal dysplasia, Optic n... OMIM:236670
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Visual field defect, Abnormal retinal vascular morphology, Retinal neovascularizat... ORPHA:247691
White-Sutton Syndrome
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Blindness, Hypermetropia, Rod-cone ... ORPHA:468678
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Visual impairment, Retinal degeneration OMIM:618479
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic atrophy, Pigmentary retinopathy, Reduced visual acuity, Optic disc pallor, Visual impairment OMIM:617282
Kniest Dysplasia
Vitreoretinopathy, High myopia, Retinal detachment, Rhegmatogenous retinal detachment, Lattice re... ORPHA:485
Alpers-Huttenlocher Syndrome
Abnormality of vision, Blindness ORPHA:726
Usher Syndrome Type 2
Cerebral cortical atrophy, Scotoma, Visual loss, Nyctalopia, Hemianopia, Myopia, Subcortical cere... ORPHA:231178
Friedreich Ataxia
Optic atrophy, Decreased amplitude of sensory action potentials, Visual field defect, Reduced vis... OMIM:229300
Gm1 Gangliosidosis
Optic atrophy, Cherry red spot of the macula, Blindness, Abnormal retinal vascular morphology, Re... ORPHA:354
Osteopetrosis, Autosomal Recessive 9
Reduced visual acuity, Papilledema OMIM:620366
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Reduced visual acuity, Ocular albinism OMIM:614073
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Cerebral atrophy, Ret... ORPHA:79282
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerebellar atrophy, Blindness, Central scotoma, Reduced visual acuity, Red-green d... ORPHA:67036
Hermansky-Pudlak Syndrome 1
Photophobia, Severely reduced visual acuity, Blindness, Ocular albinism OMIM:203300
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Mucopolysaccharidosis Type 3
Optic atrophy, Pigmentary retinopathy, Central nervous system degeneration, Constriction of perip... ORPHA:581
Alstrom Syndrome
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:203800
Joubert Syndrome 5
Congenital blindness, Reduced visual acuity, Rod-cone dystrophy, Retinal coloboma OMIM:610188
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
Alpha-N-Acetylgalactosaminidase Deficiency
Cerebral cortical atrophy, Blindness ORPHA:3137
Abetalipoproteinemia
Color vision defect, Hypopigmentation of the fundus, Scotoma, Blindness, Abnormality of retinal p... ORPHA:14
Sandhoff Disease
Blindness, Orthostatic hypotension, Cherry red spot of the macula OMIM:268800
Tay-Sachs Disease
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Cherry red spot of the macula, Blindness... ORPHA:845
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Peripheral visual field loss, Retinopathy, Ab... ORPHA:580
Isolated Complex I Deficiency
Optic disc pallor, Blindness, Optic neuropathy ORPHA:2609
Cryptococcosis
Cerebral cortical atrophy, Abnormality of vision, Abnormal optic nerve morphology, Blindness, Abn... ORPHA:1546
Hermansky-Pudlak Syndrome 8
Ocular albinism, Moderate hypermetropia, High myopia, Hypoplasia of the fovea, Reduced visual acu... OMIM:614077
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy, Reduced visual acuity, Achromatopsia, Hypermetropia, Nonprogressive visual loss, M... OMIM:614800
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness OMIM:614514
Hurler Syndrome
Neurodegeneration, Retinal degeneration OMIM:607014
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness OMIM:618731
Momo Syndrome
Blindness, Chorioretinal coloboma ORPHA:2563
Pyruvate Dehydrogenase E1-Alpha Deficiency
Blindness, Cerebral atrophy ORPHA:79243
Posterior Polymorphous Corneal Dystrophy
Very low visual acuity, Blurred vision, Reduced visual acuity, Amblyopia, Chorioretinal degenerat... ORPHA:98973
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness, Cerebral atrophy OMIM:250940
Sympathetic Ophthalmia
Macular edema, Vitreous floaters, Reduced visual acuity, Papilledema, Retinal detachment, Retinal... ORPHA:79098
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Blindness, Exudative retinopathy, Retinal telangiectasia OMIM:612199
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Optic nerve misrouting, Hypoplasia of the fovea, Macular hyp... ORPHA:79432
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Constriction of peripheral visual field, Optic disc pallor, Reduced visual acuity, Photophobia OMIM:618527
Cockayne Syndrome Type 3
Photophobia, Abnormality of peripheral nerve conduction, Retinal degeneration, Retinal atrophy, H... ORPHA:90324
Asparagine Synthetase Deficiency
Global brain atrophy, Blindness, Caudate atrophy, Cerebral visual impairment, Optic nerve hypoplasia OMIM:615574
Trichothiodystrophy
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Macular degeneration, Retinal degeneration... ORPHA:33364
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Pigmentary retinopathy, Global brain atrophy, Neurodegeneration, Retinal degenerat... OMIM:234200
Hydranencephaly
Cerebral cortical atrophy, Blindness, Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Cerebral cortical atrophy, Blindness, Aganglionic megacolon, Myopia ORPHA:847
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness OMIM:271250
Dysosteosclerosis
Optic atrophy, Blindness, Facial paralysis OMIM:224300
Adrenoleukodystrophy
Neurodegeneration, Blindness, Visual loss OMIM:300100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Hypoplasia of the retina, Retinal degeneration, Retinal atrophy, Myopia, Retinal d... OMIM:253280
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Reduced visual acuity OMIM:614195
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Congenital blindness, Blindness, Exudative retinopathy, Retinal calcification OMIM:259770
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Ocular albinism OMIM:619172
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Hypoplasia of the fovea, Reduced visual acuity, Myopia, Visual impairment, Photo... OMIM:203100
Hermansky-Pudlak Syndrome 7
Reduced visual acuity, Visual impairment, Ocular albinism OMIM:614076
Non-24-Hour Sleep-Wake Syndrome
Blindness ORPHA:73267
Cockayne Syndrome
Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, Cerebellar atrophy, Cereb... ORPHA:191
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Decreased sensory nerve conduction velocity, Reduced visual acuity, Optic neuropathy ORPHA:320375
Musk, Inability To Smell
Blindness OMIM:254150
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Macular hypoplasia, Reduced visual acuity ORPHA:2334
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Blindness OMIM:204850
Gm1 Gangliosidosis Type 1
Diffuse cerebral atrophy, Blindness, Cherry red spot of the macula ORPHA:79255
Microphthalmia With Linear Skin Defects Syndrome
Blindness, Visual loss, Abnormality of retinal pigmentation, Abnormal vitreous humor morphology, ... ORPHA:2556
Pineoblastoma
Amaurosis fugax, Retinoblastoma, Reduced visual acuity, Papilledema, Progressive visual field def... ORPHA:251909
Myopathy, Tubular Aggregate, 1
Nyctalopia OMIM:160565
Congenital Bile Acid Synthesis Defect Type 1
Nyctalopia ORPHA:79301
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Hyper-Igd Syndrome
Optic disc pallor, Nyctalopia, Rod-cone dystrophy OMIM:260920
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Myopia, Blindness, Retinal detachment OMIM:225400
Ophthalmomandibulomelic Dysplasia
Blindness ORPHA:2741
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Reduced visual acuity OMIM:604229
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Reduced visual acuity, Ocular albinism OMIM:614074
Arima Syndrome
Optic atrophy, Blindness, Chorioretinal coloboma, Retinal dystrophy OMIM:243910
Herpes Simplex Virus Stromal Keratitis
Reduced visual acuity, Blindness, Blurred vision ORPHA:137599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Blindness, Optic nerve dysplasia OMIM:615287
Gaucher Disease, Type I
Macular atrophy OMIM:230800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Constriction of peripheral visual field, Pigmentary retinopathy, Reduced visual acuity, Perifovea... OMIM:240300
Congenital Microcoria
Blindness, Blurred vision, Axial myopia, Nyctalopia, Photophobia, Visual impairment, Hemeralopia ORPHA:566
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Cerebellar atrophy, R... OMIM:216400
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Blindness, Cerebral atrophy OMIM:272750
Cystinosis, Nephropathic
Pigmentary retinopathy, Retinal pigment epithelial mottling, Cerebral atrophy, Blindness, Retinop... OMIM:219800
Farber Disease
Macular degeneration, Brain atrophy, Cherry red spot of the macula ORPHA:333
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Blindness, Optic neuropathy, Cerebellar atrophy OMIM:252010
Ophthalmomandibulomelic Dysplasia
Blindness OMIM:164900
Non-Functioning Pituitary Adenoma
Diplopia, Sudden loss of visual acuity, Blindness, Progressive visual loss, Hemianopia, Heteronym... ORPHA:91349
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Constriction of peripheral visual field, Nyctalopia, Macular atrophy OMIM:619418
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, High myopia ORPHA:97297
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Nyctalopia, Cerebellar cortical atrophy, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Meningioma
Slow decrease in visual acuity, Blindness, Visual acuity test abnormality, Papilledema, Facial pa... ORPHA:2495
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Peripheral visual field loss, Abnormality of retinal pigmentation, Retinopathy, Pa... ORPHA:217085
Stickler Syndrome
Blindness, Abnormal vitreous humor morphology, Retinal detachment, Retinal hole, Lattice retinal ... ORPHA:828
Cerebrooculonasal Syndrome
Blindness ORPHA:66625
Prolactinoma
Diplopia, Sudden loss of visual acuity, Blindness, Progressive visual loss, Hemianopia, Heteronym... ORPHA:2965
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Peripheral visual field loss, Abnormality of retinal pigmentation, Retinopathy, Pa... ORPHA:217093
Fuchs Endothelial Corneal Dystrophy
Reduced visual acuity, Visual loss, Nyctalopia ORPHA:98974
Developmental Malformations-Deafness-Dystonia Syndrome
Blindness ORPHA:79107
Aica-Ribosiduria
Congenital blindness ORPHA:250977
Norrie Disease
Optic atrophy, Cerebral cortical atrophy, Blindness, Abnormal vitreous humor morphology, Abnormal... ORPHA:649
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Blindness OMIM:603387
X-Linked Cerebral Adrenoleukodystrophy
Reduced visual acuity, Global brain atrophy, Blindness ORPHA:139396
Say-Barber-Miller Syndrome
Optic atrophy, Macular degeneration, Rod-cone dystrophy ORPHA:3132
Igg4-Related Dacryoadenitis And Sialadenitis
Blindness, Optic nerve compression, Abnormal optic nerve morphology ORPHA:79078
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression ORPHA:2785
Behçet Disease
Blindness, Retinopathy, Optic neuritis, Photophobia, Retrobulbar optic neuritis ORPHA:117
Rodrigues Blindness
Blindness OMIM:268320
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macular degeneration, Attenuation of retinal blood vessels, Visual loss, Peripheral visual field ... OMIM:266920
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of vision, Blindness ORPHA:1806
Dpagt1-Cdg
Optic atrophy, Cerebral cortical atrophy, Global brain atrophy, Diffuse optic disc pallor, Rod-co... ORPHA:86309
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia OMIM:277350
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinoblastoma, Vi... ORPHA:790
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Neurodegeneration, Blindness, Cerebral visual impairment, Visual impairment, Optic nerve hypoplasia OMIM:620455
Bardet-Biedl Syndrome
Color vision defect, Blindness, Cone/cone-rod dystrophy, Aganglionic megacolon, Reduced visual ac... ORPHA:110
Axenfeld-Rieger Syndrome, Type 2
Blindness OMIM:601499
Mccune-Albright Syndrome
Blindness OMIM:174800
Dermatoosteolysis, Kirghizian Type
Nyctalopia ORPHA:1657
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Facial paralysis, Hypopigmentation of the fundus, Cerebellar atrophy, Retinal arteriolar tortuosi... OMIM:175780
Fetal And Neonatal Alloimmune Thrombocytopenia
Blindness ORPHA:853
Amoebiasis Due To Free-Living Amoebae
Diplopia, Blindness, Visual loss, Photophobia, Facial palsy ORPHA:68
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Retinal degeneration ORPHA:79474
Tsh-Secreting Pituitary Adenoma
Diplopia, Sudden loss of visual acuity, Blindness, Abnormal visual field test, Progressive visual... ORPHA:91347
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Blindness OMIM:148210
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness OMIM:158310
Webb-Dattani Syndrome
Blindness OMIM:615926
Vici Syndrome
Macular hypoplasia, Ocular albinism, Hypopigmentation of the fundus, Macular atrophy OMIM:242840
Weill-Marchesani Syndrome 1
High myopia, Blindness OMIM:277600
Mucopolysaccharidosis, Type Iiid
Visual impairment, Cerebellar atrophy, Nyctalopia OMIM:252940
Senior-Loken Syndrome 3
Congenital blindness, Visual loss OMIM:606995
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Visual loss, Blindness, Amblyopia ORPHA:2250
Plasminogen Deficiency, Type I
Blindness OMIM:217090
Saul-Wilson Syndrome
Nyctalopia OMIM:618150
Microphthalmia, Syndromic 6
Cerebral cortical atrophy, Blindness, Myopia, Retinal dystrophy OMIM:607932
Cogan Syndrome
Photophobia, Reduced visual acuity, Blindness ORPHA:1467
Weill-Marchesani Syndrome 2
High myopia, Blindness OMIM:608328
17Q11 Microdeletion Syndrome
Retinal vascular proliferation, Blindness, Progressive visual loss, Abnormal choroid morphology ORPHA:97685
Corneodermatoosseous Syndrome
Photophobia, Hemeralopia, Nyctalopia ORPHA:3194
Leprosy
Abnormal seventh cranial physiology, Blindness, Abnormal autonomic nervous system physiology ORPHA:548
Renpenning Syndrome 1
Blindness, Hypermetropia, Cerebral atrophy OMIM:309500
Microphthalmia, Syndromic 1
Aganglionic megacolon, Blindness, Optic disc coloboma, Chorioretinal coloboma OMIM:309800
Hepatoerythropoietic Porphyria
Blindness ORPHA:95159
Fraser Syndrome 1
Blindness OMIM:219000
Alström Syndrome
Blindness, Visual loss, Cone/cone-rod dystrophy, Visual field defect, Optic disc pallor, Drusen, ... ORPHA:64
Sarcoidosis
Facial palsy, Blindness ORPHA:797
Congenital Erythropoietic Porphyria
Blindness ORPHA:79277
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Photophobia, Blindness, Visual loss ORPHA:95455
Menke-Hennekam Syndrome 1
Blindness, Hypermetropia OMIM:618332
Fraser Syndrome
Blindness ORPHA:2052

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cnga1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cnga1.

No publications found that use IMPC mice or data for Cnga1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cnga1tm45071(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cnga1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cnga1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cnga1tm45071(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cnga1tm45071(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cnga1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cnga1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cnga1em1(IMPC)Bay Intra-exon deletion Mice

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