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Gene: Slc4a3 MGI:109350

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 4 (anion exchanger), member 3
Synonyms:
Ae3,  A930038D23Rik

Order Alleles

IMPC Data Collections

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

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.

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 Slc4a3 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 Slc4a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short Qt Syndrome 7
OMIM:620231
Familial Short Qt Syndrome
ORPHA:51083

The table below shows human diseases predicted to be associated to Slc4a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 42
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... OMIM:612943
Optic Atrophy 9
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... OMIM:616289
Isovaleric Acidemia
Metabolic acidosis, Seizure ORPHA:33
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... ORPHA:59181
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Stargardt Disease 3
Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment OMIM:600110
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Macular Dystrophy, Patterned, 2
Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation OMIM:608970
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula... OMIM:616152
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... OMIM:600138
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... OMIM:616544
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... OMIM:607921
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... OMIM:613750
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... OMIM:614181
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... OMIM:608051
Retinitis Pigmentosa 78
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... OMIM:617433
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu... OMIM:612712
Bietti Crystalline Dystrophy
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... ORPHA:41751
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... OMIM:180210
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:610359
Retinitis Pigmentosa 63
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision OMIM:614494
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... OMIM:136550
Retinitis Pigmentosa 35
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia OMIM:610282
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Macular Dystrophy, Vitelliform, 2
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... OMIM:153700
Macular Dystrophy, Patterned, 1
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... OMIM:169150
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... OMIM:608850
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels OMIM:165510
Retinitis Pigmentosa 71
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... OMIM:616394
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:617123
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:617871
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... OMIM:605670
Retinitis Pigmentosa 70
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... OMIM:615922
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... OMIM:620342
Choroideremia
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... OMIM:303100
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... OMIM:617781
Macular Dystrophy, Vitelliform, 1
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... ORPHA:97341
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1
Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul... OMIM:619382
Senior-Loken Syndrome 6
Rod-cone dystrophy, Reduced visual acuity, Visual impairment OMIM:610189
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... OMIM:616079
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... OMIM:613731
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness, Chorioretinal atrophy OMIM:136900
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Severely reduced visual acuity, Rod-cone dystrophy ORPHA:3011
Retinitis Pigmentosa 38
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... OMIM:613862
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect OMIM:607476
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... OMIM:604393
Retinitis Pigmentosa Inversa With Deafness
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:601718
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 20
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... OMIM:613794
Optic Atrophy 5
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... OMIM:610708
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... OMIM:180100
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... OMIM:615725
Cavitary Optic Disc Anomalies
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect OMIM:611543
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... OMIM:609913
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... ORPHA:85128
Retinitis Pigmentosa 18
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... OMIM:601414
Macular Dystrophy, Vitelliform, 4
Drusen, Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity OMIM:616151
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Retinopathy Of Prematurity
Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula... ORPHA:90050
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Cone-Rod Dystrophy 12
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... OMIM:612657
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy, Visual impairment OMIM:617717
Optic Atrophy 12
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... OMIM:618977
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... OMIM:619977
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... OMIM:613194
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... OMIM:613660
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:606068
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:613582
Retinitis Pigmentosa 85
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity OMIM:618345
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Optic atrophy, Severely reduced visual acuity OMIM:309555
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... OMIM:619007
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... OMIM:613428
Retinitis Pigmentosa 47
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment OMIM:613758
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia OMIM:616502
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... OMIM:614180
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... OMIM:608133
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... OMIM:616170
Choroideremia
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... ORPHA:180
Ceroid Lipofuscinosis, Neuronal, 7
Blindness, Visual loss, Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618826
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... OMIM:600852
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect ORPHA:1872
Prolonged Electroretinal Response Suppression 2
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... OMIM:620344
Leber Congenital Amaurosis 2
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... OMIM:204100
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:620102
Optic Atrophy 3, Autosomal Dominant
Reduced visual acuity, Optic disc pallor, Optic atrophy, Scotoma OMIM:165300
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... OMIM:600977
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... OMIM:300029
Retinal Capillary Malformation
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... ORPHA:71213
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect OMIM:618511
Fleck Retina, Familial Benign
Nyctalopia, Retinal flecks, Visual impairment OMIM:228980
Leber Congenital Amaurosis 16
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... OMIM:614186
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... OMIM:615780
Retinitis Pigmentosa
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... OMIM:268000
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... OMIM:602093
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Usher Syndrome, Type Iiia
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect OMIM:276902
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... OMIM:619614
Fundus Albipunctatus
Nyctalopia, Retinal flecks, Fundus albipunctatus OMIM:136880
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... OMIM:608194
Retinitis Pigmentosa 2
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... OMIM:312600
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... OMIM:609021
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Tritanopia
Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T... ORPHA:88629
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... OMIM:616517
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... OMIM:613341
Bothnia Retinal Dystrophy
Macular degeneration, Nyctalopia, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... OMIM:618220
Central Retinal Vein Occlusion
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... ORPHA:411527
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio, Glaucomatous visual field defect OMIM:177700
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor, Central scotoma, Photophobia, Visual impairment OMIM:615163
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:618144
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... OMIM:615973
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Patent ductus arteriosus, Absent fovea... OMIM:615147
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit... OMIM:165500
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... OMIM:180104
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... OMIM:613756
Cone Dystrophy 4
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... OMIM:613093
Retinitis Pigmentosa 40
Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b... OMIM:613801
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... OMIM:600059
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Constriction of peripheral visual field, Congenital stationary night blindness... OMIM:616389
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... ORPHA:215
Exudative Vitreoretinopathy 5
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... OMIM:613310
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... OMIM:600105
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Blind-spot enlargment, Optic atrophy, Reduced visual acuity, Severely reduced ... OMIM:614296
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... OMIM:610356
Usher Syndrome, Type Iid
Nyctalopia, Rod-cone dystrophy OMIM:611383
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Exudative Vitreoretinopathy 3
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... OMIM:605750
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy, Visual impairment, Visual field defect OMIM:616451
Leber Congenital Amaurosis 19
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Blue Cone Monochromacy
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... OMIM:303700
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment OMIM:164100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Chorioretinal dysplasia, Visual impairment OMIM:616335
Achromatopsia
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... ORPHA:49382
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:620228
Optic Atrophy 6
Photophobia, Red-green dyschromatopsia, Optic atrophy, Visual impairment OMIM:258500
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... OMIM:300476
Retinal Dystrophy And Obesity
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... OMIM:616188
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:615233
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... OMIM:617879
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... ORPHA:209943
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Nyctalopia OMIM:618632
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:613983
Wagner Vitreoretinopathy
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,... OMIM:143200
Night Blindness, Congenital Stationary, Type 1F
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... OMIM:615058
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:616469
Cone-Rod Dystrophy 18
Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... OMIM:615374
Birdshot Chorioretinopathy
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... ORPHA:179
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... OMIM:267760
Leber Congenital Amaurosis 1
Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Photophobia, Pig... OMIM:204000
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks OMIM:611809
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Optic atrophy, Reduced visual acuity, Macular degeneration, Progressive visual loss, R... OMIM:204200
Retinitis Pigmentosa 26
Optic disc pallor, Constriction of peripheral visual field, Rod-cone dystrophy, Visual impairment... OMIM:608380
Leber Congenital Amaurosis 11
Reduced visual acuity, Visual impairment OMIM:613837
Exudative Vitreoretinopathy 1
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... OMIM:133780
Retinal Cone Dystrophy 3A
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia OMIM:610024
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Blindness, Rod-cone dystrophy, Retinopathy OMIM:551500
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... OMIM:193235
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:612095
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:617304
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... ORPHA:436274
Retinitis Pigmentosa 6
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... OMIM:312612
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co... OMIM:616732
Exudative Vitreoretinopathy 4
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... OMIM:601813
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... OMIM:610478
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im... OMIM:258870
Ocular Pigment Dispersion With Or Without Glaucoma
Myopia, Optic atrophy OMIM:600510
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... ORPHA:440727
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... OMIM:618173
Corneal Dystrophy, Avellino Type
Reduced visual acuity, Visual impairment OMIM:607541
Nanophthalmos 4
Hypermetropia, Reduced visual acuity, Optic disc drusen OMIM:615972
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Optic Atrophy 8
Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ... OMIM:616648
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:602772
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Nystagmus 1, Congenital, X-Linked
Mildly reduced visual acuity, Reduced visual acuity OMIM:310700
Retinitis Pigmentosa 93
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity OMIM:619845
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Photophobia, Visual impairment, Attenuation of retinal... OMIM:614504
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... OMIM:617406
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:600132
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc... OMIM:612989
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten... ORPHA:141
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at... OMIM:303110
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Optic atrophy, Macular degeneration, Progressive visual loss, Retinal degeneration OMIM:256730
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613810
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:613581
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... ORPHA:414
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Myopia, Optic atrophy, Visual impairment ORPHA:1574
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Åland Islands Eye Disease
Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ... ORPHA:178333
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R... OMIM:125250
Vitreoretinochoroidopathy
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... OMIM:193220
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... ORPHA:52427
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v... ORPHA:98890
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N... OMIM:616108
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Nyctalopia, Retinal dystrophy, Reduced visual acuity OMIM:610156
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my... OMIM:615860
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... ORPHA:284454
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Visual loss, Central scotoma,... OMIM:604116
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment ORPHA:75858
Optic Pathway Glioma
Papilledema, Blindness, Visual loss, Neurofibroma, Optic atrophy, Reduced visual acuity, Visual f... ORPHA:2086
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... OMIM:619649
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Narp Syndrome
Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field... ORPHA:644
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity OMIM:618770
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy, Reduced visual acuity, Cerebral visual impairment OMIM:618768
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... OMIM:613767
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment OMIM:113750
Night Blindness, Congenital Stationary, Type 1E
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia OMIM:614565
Oculocutaneous Albinism Type 6
Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho... ORPHA:370097
Leber Congenital Amaurosis 15
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... OMIM:613843
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Constriction of peripheral visual field, Optic atrophy OMIM:182830
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... ORPHA:791
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... OMIM:300843
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Glycogen Storage Disease 0, Liver
Increased serum lactate, Seizure OMIM:240600
Phenformin 4-Hydroxylation
Lactic acidosis OMIM:261590
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P... OMIM:300578
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... OMIM:216900
Retinitis Pigmentosa 75
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... OMIM:617023
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Peripheral axonal neuropathy, Visual loss, Optic atrophy, Undetectable visual evoked p... OMIM:601338
Tiglic Acidemia
Acidosis OMIM:275190
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Nyctalopia, Mild myopia OMIM:617024
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... OMIM:210370
Leber Congenital Amaurosis 3
Visual loss, Nyctalopia, Constriction of peripheral visual field OMIM:604232
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Sandhoff Disease
Cherry red spot of the macula, Blindness ORPHA:796
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration... OMIM:614292
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity OMIM:615983
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi... ORPHA:94058
Idiopathic Panuveitis
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... ORPHA:280921
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
Retinitis Pigmentosa 23
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... OMIM:300424
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Reduced visual acuity OMIM:613216
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Blindness, Ring scotoma, Decreased sensory nerve conduct... OMIM:609033
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Visual impairment OMIM:246000
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Constriction of peripheral visual field, Optic atrophy, Abno... ORPHA:1215
Retinitis Pigmentosa 59
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dystrophy, C... OMIM:613861
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Night Blindness, Congenital Stationary, Type 1B
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... OMIM:257270
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Blindness, Optic atrophy ORPHA:216873
Juvenile Glaucoma
Optic neuropathy, Central scotoma, Peripheral visual field loss, High myopia, Retinal arterial oc... ORPHA:98977
Behr Syndrome
Blindness, Optic atrophy, Hypoplastic optic chiasm, Progressive visual loss, Sensory axonal neuro... OMIM:210000
Krabbe Disease
Abnormal flash visual evoked potentials, Blindness, Decreased nerve conduction velocity, Optic at... OMIM:245200
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Retinitis Pigmentosa 46
Optic disc pallor, Constriction of peripheral visual field, Pigmentary retinopathy, Rod-cone dyst... OMIM:612572
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Photophobia, Chorioretinal hypopigmentation, Reduced visual acuity OMIM:619165
Leukoencephalopathy With Vanishing White Matter 1
Blindness, Optic atrophy, Gliosis OMIM:603896
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:600151
Night Blindness, Congenital Stationary, Type 2A
Congenital stationary night blindness, Reduced visual acuity, Visual impairment OMIM:300071
Retinitis Pigmentosa 89
Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin... OMIM:618955
Severe Canavan Disease
Blindness, Optic atrophy ORPHA:314911
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation ORPHA:171844
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund... OMIM:613835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia OMIM:615181
Renal Tubular Acidosis, Proximal
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis OMIM:179830
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Absent retinal pigment epithelium, Patent ductus arteriosus, Reduced visual acuity, Visual impair... OMIM:122430
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... ORPHA:352731
Foveal Hypoplasia 2
Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Leukodystrophy, Hypomyelinating, 14
Blindness OMIM:617899
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Blindness, Abnormality of macular pigmentation ORPHA:1573
Cataract 11, Multiple Types
Blindness OMIM:610623
Sarcosinemia
Congenital blindness, Optic atrophy ORPHA:3129
Idiopathic Uveal Effusion Syndrome
Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d... ORPHA:209956
Wolfram Syndrome, Mitochondrial Form
Blindness, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Corneal Dystrophy, Lattice Type Iiia
Reduced visual acuity, Visual impairment OMIM:608471
Enhanced S-Cone Syndrome
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... OMIM:616468
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project... ORPHA:2788
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness OMIM:607674
Usher Syndrome Type 3
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231183
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Slo... OMIM:601152
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete... ORPHA:436245
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia ORPHA:35737
Cln3 Disease
Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retinopathy, Progressive ... ORPHA:228346
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct... ORPHA:5
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Nyctalopia, Myopia ORPHA:1390
Usher Syndrome Type 1
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231169
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... OMIM:616959
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... OMIM:270200
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Large central visual field defect, Blindness, Visual loss, Pigmentary retinopa... ORPHA:79264
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Visual field defect, Retin... OMIM:615651
Infantile Refsum Disease
Constriction of peripheral visual field, Facial palsy, Nyctalopia, Optic atrophy, Rod-cone dystro... ORPHA:772
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Visual loss, Optic atrophy, Gliosis, Abnormality of visual e... OMIM:256600
Infantile Neuroaxonal Dystrophy
Blindness, Peripheral axonal neuropathy, Cerebellar gliosis, Optic atrophy, Abnormal autonomic ne... ORPHA:35069
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Rod-cone dystrophy, Reduced visual acuity OMIM:619082
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Gliosis, Reduced visual acuity ORPHA:357225
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot... ORPHA:370091
Leber Optic Atrophy
Optic neuropathy, Visual loss, Central retinal vessel vascular tortuosity, Optic atrophy, Leber o... OMIM:535000
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Nyctalopia, Visual ... ORPHA:96
Peroxisome Biogenesis Disorder 9B
Constriction of peripheral visual field, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia OMIM:614879
Canavan Disease
Blindness, Optic atrophy, Visual impairment OMIM:271900
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Photophobia, Visual impairment, Color vision ... ORPHA:1873
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormality of somatosensory evoked potentials, Cerebral vis... ORPHA:52368
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia OMIM:277350
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Blindness, Visual loss, Abnormal amplitude of flash visual evoked potentials, Reduced vis... ORPHA:168491
Cone-Rod Dystrophy And Hearing Loss 2
Photophobia, Reduced visual acuity OMIM:618358
Madras Motor Neuron Disease
Facial palsy, Optic atrophy, Reduced visual acuity, Visual impairment ORPHA:137867
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Severely reduced visual acuity, Retinal coloboma, Moderately reduced visual acuity, Chorioretinal... ORPHA:2921
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials, ... OMIM:617523
Albinism, Ocular, Type I
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia OMIM:300500
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Myopia, Reduced visual acuity, Hypopigmentation of the fundus, Visual im... OMIM:203200
Retinal Dystrophy With Or Without Extraocular Anomalies
Retinal dystrophy, Reduced visual acuity OMIM:617175
Friedreich Ataxia
Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential... OMIM:229300
Methanol Poisoning
Blindness, Abnormal optic nerve morphology, Visual impairment, Blurred vision ORPHA:31825
Retinitis Pigmentosa 74
Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Pigmentary ret... OMIM:616562
Albers-Schönberg Osteopetrosis
Blindness, Optic atrophy, Facial palsy, Visual impairment ORPHA:53
Renal Coloboma Syndrome
Myopia, Optic disc coloboma, Optic nerve dysplasia, Retinal coloboma, Visual impairment ORPHA:1475
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Nyctalopia, Optic atrophy, Sensory axonal neuropathy ORPHA:99947
Usher Syndrome
Abnormality of retinal pigmentation, Blindness, Myopia, Nyctalopia, Visual field defect, Progress... ORPHA:886
Hsd10 Disease, Infantile Type
Blindness, Visual loss, Optic atrophy, Rod-cone dystrophy, Retinal degeneration ORPHA:391428
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... ORPHA:206443
Macrophthalmia, Colobomatous, With Microcornea
Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma OMIM:602499
Myopia 23, Autosomal Recessive
Reduced visual acuity, Visual impairment, High myopia OMIM:615431
Norrie Disease
Retinal detachment, Blindness, Optic atrophy, Retinal dysplasia, Retinal fold OMIM:310600
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu... ORPHA:263479
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Blindness, Optic atrophy, Visual impairment, Abnormali... ORPHA:1187
Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Blindness, Progressive visual field defects ORPHA:79263
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Blindness, Abnormal retinal vascular morphology,... ORPHA:3205
Musk, Inability To Smell
Blindness OMIM:254150
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Cohen Syndrome
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,... OMIM:216550
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... ORPHA:71505
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Myopia, Optic atrophy ORPHA:2971
Alpers-Huttenlocher Syndrome
Abnormality of vision, Blindness ORPHA:726
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness OMIM:271250
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Visual loss, Nyctalopia, Axonal degeneration, Pigmentary... ORPHA:88628
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia, Optic atrophy ORPHA:370959
Cach Syndrome
Optic neuritis, Blindness, Optic atrophy ORPHA:135
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Blindness, Reduced visual acuity ORPHA:3208
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Blindness, Visual loss, Reduced visual acuity, Abnormal fundus morpholog... ORPHA:94147
Optic Atrophy-Intellectual Disability Syndrome
Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Opt... ORPHA:401777
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali... ORPHA:79431
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Pantothenate Kinase-Associated Neurodegeneration
Blindness, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral visual field loss, Visua... ORPHA:157850
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evok... ORPHA:485421
Osteopetrosis, Autosomal Recessive 2
Blindness, Cranial nerve compression, Optic atrophy, Facial paralysis OMIM:259710
Isolated Atp Synthase Deficiency
Blindness, Rod-cone dystrophy, Optic atrophy ORPHA:254913
Non-24-Hour Sleep-Wake Syndrome
Blindness ORPHA:73267
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... ORPHA:206436
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
Myopia 22, Autosomal Dominant
Reduced visual acuity, High myopia OMIM:615420
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness OMIM:614514
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Blindness OMIM:204850
Charcot-Marie-Tooth Disease, Type 4D
Myopia, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, De... OMIM:601455
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy, Reduced visual acuity ORPHA:508093
Aniridia 2
Optic atrophy, Amblyopia OMIM:617141
Coloboma, Ocular, Autosomal Recessive
Optic disc coloboma, Retinal coloboma, Reduced visual acuity OMIM:216820
Pyruvate Dehydrogenase E1-Alpha Deficiency
Blindness, Cerebellar gliosis, Gliosis, Basal ganglia gliosis ORPHA:79243
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness, Retinal dystrophy ORPHA:713
Joubert Syndrome 35
Nyctalopia, Rod-cone dystrophy, Progressive visual loss OMIM:618161
Mitochondrial Complex I Deficiency, Nuclear Type 4
Blindness OMIM:618225
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potent... OMIM:125310
Refsum Disease
Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visual loss, ... ORPHA:773
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus, Blindness, Optic atrophy, High myopia OMIM:220500
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... ORPHA:91495
Osteopetrosis, Autosomal Recessive 1
Blindness, Facial palsy, Optic atrophy, Facial paralysis, Visual impairment OMIM:259700
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Myopia, Cerebral visual impairment, Optic atrophy, Hypermetropia, Abnormality of visual evoked po... OMIM:616875
Cinca Syndrome
Retrobulbar optic neuritis, Blindness, Pseudopapilledema, Visual impairment ORPHA:1451
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu... ORPHA:79435
Joubert Syndrome 6
Blindness, Retinal degeneration, Chorioretinal coloboma OMIM:610688
Tay-Sachs Disease
Cherry red spot of the macula, Blindness OMIM:272800
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Stickler Syndrome, Type I
Retinal detachment, Myopia, Blindness, Vitreoretinopathy, Membranous vitreous appearance, Retinal... OMIM:108300
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Blindness, Optic atrophy ORPHA:95433
Microphthalmia-Brain Atrophy Syndrome
Blindness ORPHA:77299
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Blindness OMIM:560000
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness, Optic atrophy ORPHA:3078
Full Nf2-Related Schwannomatosis
Blindness, Remnants of the hyaloid vascular system, Facial palsy, Amblyopia, Retinal hamartoma, E... ORPHA:637
Refsum Disease, Classic
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness OMIM:250940
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Visual impairment ORPHA:1933
Intermediate Uveitis
Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Reduced visual acuity, Macul... ORPHA:279914
Bardet-Biedl Syndrome 20
Papilledema, Constriction of peripheral visual field, Nyctalopia, Hypermetropia, Hemeralopia, Ret... OMIM:619471
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Central scotoma, Blindness, Optic atrophy, Visual impairment ORPHA:543470
Cherubism
Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, M... OMIM:118400
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy, Visual impairment ORPHA:702
Joubert Syndrome With Oculorenal Defect
Blindness, Aganglionic megacolon, Retinal dystrophy, Chorioretinal coloboma, Visual impairment ORPHA:2318
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Abnormality of pattern visual evoked potentials, Visual field defect, Rod-cone dystro... ORPHA:166035
Cranioectodermal Dysplasia 4
Nyctalopia, Rod-cone dystrophy, Hypermetropia, Visual impairment OMIM:614378
Usher Syndrome Type 2
Myopia, Scotoma, Visual loss, Nyctalopia, Hemianopia ORPHA:231178
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Myopia, Retinal neovascularization OMIM:619074
Aica-Ribosuria Due To Atic Deficiency
Congenital blindness, Optic atrophy OMIM:608688
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness OMIM:618731
Herpes Simplex Virus Stromal Keratitis
Blindness, Reduced visual acuity ORPHA:137599
Microcephaly 20, Primary, Autosomal Recessive
Blindness, Optic nerve hypoplasia OMIM:617914
Congenital Microcoria
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision ORPHA:566
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Myopia, Nyctalopia, Rod-cone dystrophy, High myopia OMIM:617763
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Myopia, Optic atrophy, Cerebral visual impairment ORPHA:480898
Hyperostosis Cranialis Interna
Facial palsy, Optic atrophy, Reduced visual acuity OMIM:144755
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Blindness OMIM:236270
Senior-Loken Syndrome 8
Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment OMIM:616307
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Retinal degeneration OMIM:615630
Fuchs Endothelial Corneal Dystrophy
Visual loss, Nyctalopia, Reduced visual acuity ORPHA:98974
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal... ORPHA:2526
Gm1 Gangliosidosis
Blindness, Abnormal retinal vascular morphology, Patent ductus arteriosus, Optic atrophy, Retinop... ORPHA:354
Alstrom Syndrome
Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Photoph... OMIM:203800
Xfe Progeroid Syndrome
Blindness, Optic atrophy, Visual impairment, Attenuation of retinal blood vessels OMIM:610965
Lowry-Wood Syndrome
Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss OMIM:226960
Congenital Bile Acid Synthesis Defect Type 1
Nyctalopia ORPHA:79301
Myopathy, Tubular Aggregate, 1
Nyctalopia OMIM:160565
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Redu... ORPHA:309256
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness ORPHA:3137
Momo Syndrome
Blindness, Retinal coloboma OMIM:157980
Microphthalmia, Isolated, With Coloboma 9
Reduced visual acuity, Retinal detachment, Macular coloboma, Visual impairment OMIM:615145
Ophthalmomandibulomelic Dysplasia
Blindness ORPHA:2741
Micro Syndrome
Abnormality of retinal pigmentation, Cerebral visual impairment, Optic atrophy, Retinal coloboma,... ORPHA:2510
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Redu... ORPHA:309263
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Tay-Sachs Disease
Blindness, Optic atrophy, Gliosis, Cherry red spot of the macula, Visual impairment ORPHA:845
Hermansky-Pudlak Syndrome 6
Amblyopia, Ocular albinism, Reduced visual acuity, Absent foveal reflex, Photophobia, Macular hyp... OMIM:614075
Hermansky-Pudlak Syndrome 1
Photophobia, Severely reduced visual acuity, Ocular albinism, Blindness OMIM:203300
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... OMIM:231550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Re... OMIM:236670
White-Sutton Syndrome
Myopia, Blindness, Optic atrophy, Hypermetropia, Rod-cone dystrophy, Visual impairment ORPHA:468678
Osteopetrosis, Autosomal Recessive 9
Papilledema, Reduced visual acuity OMIM:620366
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Macular edema, Visual field defec... ORPHA:247691
Bardet-Biedl Syndrome 1
Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hypera... OMIM:209900
Autosomal Dominant Optic Atrophy And Cataract
Blindness, Red-green dyschromatopsia, Central scotoma, Optic atrophy, Reduced visual acuity, Trit... ORPHA:67036
Ophthalmomandibulomelic Dysplasia
Blindness OMIM:164900
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Myopia, Moderate hypermetropia, Ocular albinism, Redu... OMIM:614077
Maternal Uniparental Disomy Of Chromosome 4
Nyctalopia, Optic atrophy, Visual field defect, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:96180
Aica-Ribosiduria
Congenital blindness ORPHA:250977
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,... OMIM:250410
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Isolated Complex I Deficiency
Optic disc pallor, Blindness, Optic neuropathy ORPHA:2609
Sandhoff Disease
Cherry red spot of the macula, Blindness, Orthostatic hypotension OMIM:268800
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Pseudoxanthoma Elasticum, Forme Fruste
Myopia, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, Macular degener... OMIM:177850
Non-Functioning Pituitary Adenoma
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... ORPHA:91349
Posterior Polymorphous Corneal Dystrophy
Very low visual acuity, Chorioretinal degeneration, Amblyopia, Reduced visual acuity, Photophobia... ORPHA:98973
Pierson Syndrome
Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ... OMIM:609049
Adrenoleukodystrophy
Visual loss, Blindness OMIM:300100
Prolactinoma
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... ORPHA:2965
Cryptococcosis
Blindness, Abnormal retinal morphology, Vitritis, Abnormality of vision, Abnormal optic nerve mor... ORPHA:1546
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Photophobia, Abnormality of visual evoked potentials, High myopia OMIM:614457
White-Sutton Syndrome
Myopia, Optic nerve hypoplasia, Mild myopia, Patent ductus arteriosus, Hypermetropia, Abnormality... OMIM:616364
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Exudative retinopathy, Blindness, Optic atrophy, Retinal telangiectasia OMIM:612199
Developmental Malformations-Deafness-Dystonia Syndrome
Blindness ORPHA:79107
Cerebrooculonasal Syndrome
Blindness ORPHA:66625
Abetalipoproteinemia
Abnormality of retinal pigmentation, Blindness, Scotoma, Nyctalopia, Progressive visual loss, Rod... ORPHA:14
Momo Syndrome
Blindness, Chorioretinal coloboma ORPHA:2563
Dysosteosclerosis
Blindness, Facial paralysis, Optic atrophy OMIM:224300
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Myopia, Ocular albinism, Reduced visual acuity, Photophobia, Visual impa... OMIM:203100
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Abnormality of visual ... ORPHA:309271
Rodrigues Blindness
Blindness OMIM:268320
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Myopia, Blindness, Optic atrophy ORPHA:847
Asparagine Synthetase Deficiency
Blindness, Optic nerve hypoplasia, Cerebral visual impairment OMIM:615574
Hydranencephaly
Abnormality of vision, Blindness, Chorioretinal atrophy, Optic nerve hypoplasia ORPHA:2177
Mucopolysaccharidosis Type 3
Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, Pigmentary... ORPHA:581
Pineoblastoma
Papilledema, Progressive visual field defects, Reduced visual acuity, Retinoblastoma, Amaurosis f... ORPHA:251909
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Optic disc pallor, Blindness, Optic neuropathy OMIM:252010
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Blindness OMIM:603387
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
Hermansky-Pudlak Syndrome
Myopia, Amblyopia, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormality of ... ORPHA:79430
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of vision, Blindness ORPHA:1806
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Reduced visual ... ORPHA:79098
X-Linked Cerebral Adrenoleukodystrophy
Peripheral axonal neuropathy, Blindness, Reduced visual acuity ORPHA:139396
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul... ORPHA:909
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Blindness ORPHA:79255
Joubert Syndrome 5
Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity OMIM:610188
Meningioma
Papilledema, Bitemporal hemianopia, Blindness, Facial palsy, Neurofibroma, Slow decrease in visua... ORPHA:2495
Mccune-Albright Syndrome
Blindness OMIM:174800
Osteoporosis-Pseudoglioma Syndrome
Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Congenital blindness OMIM:259770
Arima Syndrome
Blindness, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma OMIM:243910
Axenfeld-Rieger Syndrome, Type 2
Blindness OMIM:601499
Dermatoosteolysis, Kirghizian Type
Nyctalopia ORPHA:1657
Senior-Loken Syndrome 3
Visual loss, Congenital blindness OMIM:606995
Hyper-Igd Syndrome
Optic disc pallor, Nyctalopia, Rod-cone dystrophy OMIM:260920
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Blindness, Facial palsy, Visual loss, Diplopia, Photophobia ORPHA:68
Fetal And Neonatal Alloimmune Thrombocytopenia
Blindness ORPHA:853
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Blindness, Retinal dystrophy, Chorioretinal dysplasia, Ambly... ORPHA:2556
Gm2-Gangliosidosis, Ab Variant
Blindness OMIM:272750
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Large central visual field defect, Abnormal fov... ORPHA:580
Weill-Marchesani Syndrome 1
Patent ductus arteriosus, Blindness, High myopia OMIM:277600
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Retinal detachment, Blindness, Myopia OMIM:225400
Tsh-Secreting Pituitary Adenoma
Bitemporal hemianopia, Blindness, Abnormal visual field test, Diplopia, Hemianopia, Sudden loss o... ORPHA:91347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Blindness, Optic nerve dysplasia, Retinal dysplasia OMIM:615287
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Photophobia, Blindness OMIM:148210
Cystinosis, Nephropathic
Blindness, Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Pigmentary re... OMIM:219800
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy ORPHA:79330
Cogan Syndrome
Photophobia, Blindness, Reduced visual acuity ORPHA:1467
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a... ORPHA:217085
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Visual loss, Blindness, Amblyopia ORPHA:2250
Mucoepithelial Dysplasia, Hereditary
Photophobia, Blindness OMIM:158310
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Nyctalopia, Optic a... ORPHA:217093
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Nyctalopia, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia OMIM:619321
Webb-Dattani Syndrome
Blindness OMIM:615926
Plasminogen Deficiency, Type I
Blindness OMIM:217090
Cockayne Syndrome A
Retinal atrophy, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased ... OMIM:216400
Igg4-Related Dacryoadenitis And Sialadenitis
Blindness, Optic nerve compression, Abnormal optic nerve morphology ORPHA:79078
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Behçet Disease
Blindness, Retrobulbar optic neuritis, Photophobia, Optic neuritis, Retinopathy ORPHA:117
Weill-Marchesani Syndrome 2
Patent ductus arteriosus, Blindness, High myopia OMIM:608328
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Nyctalopia, Constriction of peripheral visual field, Macular atrophy OMIM:619418
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
Saul-Wilson Syndrome
Nyctalopia OMIM:618150
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral visual impairment, Visual loss, Astrocytosis, Gliosis, Abnormality of visual evoked pote... OMIM:203700
Stickler Syndrome
Retinal detachment, Blindness, Myopia, Abnormal vitreous humor morphology, Visual impairment ORPHA:828
Norrie Disease
Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula... ORPHA:649
Cockayne Syndrome B
Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve conduction ... OMIM:133540
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy, Astrocytosis ORPHA:258
Dpagt1-Cdg
Diffuse optic disc pallor, Nyctalopia, Rod-cone dystrophy, Optic atrophy ORPHA:86309
Leprosy
Blindness, Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomi... ORPHA:548
Mucopolysaccharidosis, Type Iiid
Nyctalopia, Visual impairment OMIM:252940
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Blindness, Retinal vascular proliferation, Schwannoma, Glomus jugular ... ORPHA:97685
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Visual impairment ORPHA:512
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression, Visual impairment ORPHA:667
Renpenning Syndrome 1
Blindness, Hypermetropia OMIM:309500
Hepatoerythropoietic Porphyria
Blindness ORPHA:95159
Microphthalmia, Syndromic 6
Myopia, Blindness, Retinal dystrophy OMIM:607932
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Photophobia, Visual loss, Blindness, Renal tubular epithelial necrosis ORPHA:95455
Fraser Syndrome 1
Blindness OMIM:219000
Congenital Erythropoietic Porphyria
Blindness ORPHA:79277
Sarcoidosis
Blindness, Facial palsy ORPHA:797
Menke-Hennekam Syndrome 1
Blindness, Hypermetropia OMIM:618332
Fraser Syndrome
Blindness ORPHA:2052
Microphthalmia, Syndromic 1
Blindness, Optic disc coloboma, Aganglionic megacolon, Chorioretinal coloboma OMIM:309800
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Retinal pigment epithelial atrophy, Retina... ORPHA:64
Familial Short Qt Syndrome
ORPHA:51083
Short Qt Syndrome 7
OMIM:620231

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 Slc4a3

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 Slc4a3.

No publications found that use IMPC mice or data for Slc4a3.

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MGI Allele Allele Type Produced
Slc4a3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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