Gene Summary

Name:
cone-rod homeobox
Synonyms:
Crx1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased fasting circulating glucose level Crxem1(IMPC)Ccpcz HOM Early adult 5.14×10-07
small thymus Crxem1(IMPC)Ccpcz HOM Early adult 0.00
hypoactivity Crxem1(IMPC)Ccpcz HOM   Early adult 6.90×10-05
enlarged heart Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal urinary bladder morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
decreased exploration in new environment Crxem1(IMPC)Ccpcz HOM Early adult 3.56×10-07
increased NK cell number Crxem1(IMPC)Ccpcz HOM Early adult 6.75×10-05
abnormal skin morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged urinary bladder Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
small testis Crxem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Crxem1(IMPC)Ccpcz HOM Early adult 0.00

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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.

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Human diseases caused by Crx 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 Crx by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Cone-Rod Dystrophy 19
Retinal dystrophy, Cone/cone-rod dystrophy OMIM:615860
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Severely reduced visual acuity, Subretinal deposits, Hyporeflective spaces on macular OCT, Choroi... ORPHA:59181
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Stargardt Disease 3
Macular atrophy, Macular flecks, Macular dystrophy, Reduced visual acuity, Visual impairment OMIM:600110
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Late-Onset Retinal Degeneration
Retinal degeneration, Rod-cone dystrophy, Scotoma, Visual loss, Blindness, Retinopathy, Sub-RPE d... OMIM:605670
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Central scotoma, Macular dystrophy, Reduced visual acuity, Bull's eye maculopa... OMIM:616170
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Macular Dystrophy, Patterned, 3
Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Central scotoma, Macular dystrophy, Reduced visual acuity, Vite... OMIM:616152
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 3
Reduced visual acuity, Rod-cone dystrophy OMIM:300029
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Retinitis Pigmentosa 80
Progressive visual loss, Macular atrophy, Blindness OMIM:617781
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... OMIM:153700
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuit... OMIM:600138
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Bietti Crystalline Dystrophy
Severely reduced visual acuity, Subretinal deposits, Central scotoma, Large central visual field ... ORPHA:41751
Macular Dystrophy, Retinal, 3
Macular drusen, Central scotoma, Reduced visual acuity, Retinal pigment epithelial atrophy, Color... OMIM:608850
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Central scotoma, Retin... ORPHA:827
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Leber Congenital Amaurosis 12
Abnormality of macular pigmentation, Congenital blindness OMIM:610612
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Central scotoma, Reduced visual acuity, Retinal nerve fiber edema, Retinal telangiectasia, Centra... OMIM:619382
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:300071
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy OMIM:268010
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Visual impairment, Macular edema, Rod-cone ... OMIM:613750
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Blindness, Congenital stationary night blindness OMIM:616389
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:610189
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Macular Degeneration, Early-Onset
Choroidal neovascularization, Reduced visual acuity, Macular degeneration OMIM:616118
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Severely reduced visual acuity, Rod-cone dystrophy ORPHA:3011
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Visual imp... OMIM:603649
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Macular Dystrophy, Patterned, 1
Pattern dystrophy of the retina, Metamorphopsia, Choroidal neovascularization, Macular dystrophy,... OMIM:169150
Macular Dystrophy, Vitelliform, 1
Macular dystrophy, Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, ... OMIM:153840
Stargardt Disease 4
Reduced visual acuity, Retinal flecks, Macular degeneration OMIM:603786
Macular Dystrophy, Vitelliform, 4
Moderately reduced visual acuity, Macular dystrophy, Vitelliform-like macular lesions, Drusen OMIM:616151
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Progressive visual loss, Central scotoma, Large central visual f... ORPHA:85128
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Progressive visual loss, Rod-cone... OMIM:613862
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Reduced visual acuity, Blindness OMIM:601553
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Myopia, Reduced visual acuity, Retinal pigment epithelial mot... OMIM:304020
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Macular Degeneration, X-Linked Atrophic
Reduced visual acuity, Macular degeneration OMIM:300834
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Metamorphopsia, Choroidal neovascularization, Macular dystrophy, Reduced... OMIM:608161
Retinitis Pigmentosa 78
Optic disc pallor, Reduced visual acuity, Visual field defect, Photopsia, Cystoid macular edema, ... OMIM:617433
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Color vision defect, Nyctalopia, Visual impairment OMIM:607476
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Retinopathy, Pigmentary retinopathy, Cerebr... OMIM:610951
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 13
Retinal degeneration, Hypopigmentation of the fundus, Rod-cone dystrophy, Constriction of periphe... OMIM:600059
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Retinitis Pigmentosa 63
Blurred vision, Optic disc pallor, Nyctalopia, Rod-cone dystrophy OMIM:614494
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness OMIM:136900
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
Retinitis Pigmentosa 20
Visual impairment, Rod-cone dystrophy, Attenuation of retinal blood vessels, Nyctalopia, Severely... OMIM:613794
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Reduced visual acuity, Blindness, Attenuation of retinal bloo... OMIM:604393
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 35
Blindness, Cone/cone-rod dystrophy, Nyctalopia, Rod-cone dystrophy OMIM:610282
Cone-Rod Dystrophy 12
Central scotoma, Bull's eye maculopathy, Reduced visual acuity, Color vision defect, Cone/cone-ro... OMIM:612657
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone dystrophy, Macular degeneration, Color vision defect, Photophobia, Co... OMIM:600977
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy OMIM:615725
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinitis Pigmentosa 18
Rod-cone dystrophy, Scotoma, Retinal arteriolar constriction, Progressive visual field defects, N... OMIM:601414
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the ret... OMIM:614500
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Rod-cone dystrophy, Attenuation of retinal blood vessels, N... OMIM:616394
Retinal Capillary Malformation
Myopia, Central fundal arteriolar microaneurysms, Subretinal exudate, Retinal capillary hemangiom... ORPHA:71213
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Cone-Rod Dystrophy 15
Progressive visual loss, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Constriction of ... OMIM:613660
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Reduced visual acuity, Retinal pigment epithelial atroph... OMIM:619007
Choroideremia
Choroideremia, Progressive visual loss, Chorioretinal degeneration, Constriction of peripheral vi... OMIM:303100
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy, Reduced visual acuity, Photophobia, Nyctalopia OMIM:616502
Retinoschisis Of Fovea
Foveoschisis, Hypermetropia, Macular dystrophy, Mildly reduced visual acuity, Rod-cone dystrophy,... OMIM:268080
Chromosome Xp11.3 Deletion Syndrome
Nyctalopia, Blindness, Visual impairment, Rod-cone dystrophy OMIM:300578
Retinitis Pigmentosa 4
Visual field defect, Rod-cone dystrophy, Blindness, Pigmentary retinopathy, Nyctalopia OMIM:613731
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairm... OMIM:601718
Choroideremia
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Abnormal... ORPHA:180
Retinal Cone Dystrophy 3A
Photophobia, Reduced visual acuity, Cone dystrophy, Dyschromatopsia, Cone/cone-rod dystrophy, Nyc... OMIM:610024
Retinitis Pigmentosa 50
Optic disc pallor, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Retinal detachment,... OMIM:613194
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Rod-cone dystrophy, Constriction of peripheral visual field... OMIM:608133
Retinitis Pigmentosa 85
Reduced visual acuity, Progressive night blindness, Rod-cone dystrophy OMIM:618345
Retinitis Pigmentosa 62
Optic disc pallor, Visual field defect, Nyctalopia, Rod-cone dystrophy OMIM:614181
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Reduced visual... OMIM:618195
Nanophthalmos 4
Optic disc drusen, Reduced visual acuity, Visual impairment OMIM:615972
Cone Dystrophy 3
Macular atrophy, Progressive visual loss, Reduced visual acuity, Photophobia, Cone/cone-rod dystr... OMIM:602093
Fleck Retina Of Kandori
Nyctalopia, Blindness, Retinal flecks OMIM:228990
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Cone-Rod Dystrophy 13
Reduced visual acuity, Macular degeneration, Color vision defect, Photophobia, Cone/cone-rod dyst... OMIM:608194
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Retinitis Pigmentosa 37
Rod-cone dystrophy, Red-green dyschromatopsia, Nyctalopia, Pigmentary retinopathy, Photophobia, C... OMIM:611131
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy, Central scotoma, Photophobia, Nyctalopia OMIM:616079
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... OMIM:120970
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia, Metamorphopsia, Visual field defect, Color vision de... ORPHA:1243
Retinitis Pigmentosa 2
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy, Blindness, Severely reduced visual acuity OMIM:309555
Achromatopsia 7
Macular atrophy, Hypoplasia of the fovea, Central scotoma, Reduced visual acuity, Absent foveal r... OMIM:616517
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Reduced visual acuity, Retinal degeneration OMIM:617879
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Macular dystrophy, Reduced visual acuity, Ab... OMIM:136550
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Bothnia Retinal Dystrophy
Retinal dystrophy, Nyctalopia, Macular degeneration OMIM:607475
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Nyctalopia, Rod-cone dystrophy OMIM:615922
Tritanopia
Reduced visual acuity, Abnormal retinal morphology, Color vision test abnormality, Photophobia, T... ORPHA:88629
Cavitary Optic Disc Anomalies
Peripapillary atrophy, Reduced visual acuity, Nyctalopia, Visual field defect OMIM:611543
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment OMIM:613093
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Optic disc pallor, Reduced visual acuity, Visual field defect, Cerebral visual imp... OMIM:615722
Retinitis Pigmentosa 92
Visual impairment, Paracentral scotoma, Constriction of peripheral visual field, Pigmentary retin... OMIM:619614
Retinal Detachment
Retinal detachment OMIM:180050
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... OMIM:251270
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atr... OMIM:619389
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual fiel... OMIM:617460
Usher Syndrome, Type Iiia
Reduced visual acuity, Visual field defect, Nyctalopia, Rod-cone dystrophy OMIM:276902
Optic Atrophy 12
Optic atrophy, Optic disc pallor, Reduced visual acuity, Abnormal Ishihara plate test, Photophobi... OMIM:618977
Retinitis Pigmentosa 12
Nyctalopia, Rod-cone dystrophy OMIM:600105
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Optic Atrophy 9
Optic atrophy, Reduced visual acuity, Paracentral scotoma, Red-green dyschromatopsia, Visual impa... OMIM:616289
Retinitis Pigmentosa
Abnormality of fundus pigmentation, Constriction of peripheral visual field, Nyctalopia, Rod-cone... OMIM:268000
Night Blindness, Congenital Stationary, Type 1E
Myopia, Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:614565
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... OMIM:618144
Microphthalmia, Isolated 5
Foveoschisis, Hypermetropia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, ... OMIM:611040
Fundus Albipunctatus
Nyctalopia, Retinal flecks, Fundus albipunctatus OMIM:136880
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Exudative Vitreoretinopathy 5
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal exudat... OMIM:613310
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Reduced visual acuity, Peripheral retinal avascularization, Retinal ... OMIM:133780
Congenital Stationary Night Blindness
Myopia, Abnormality of retinal pigmentation, Hypermetropia, Reduced visual acuity, Color vision d... ORPHA:215
Retinitis Pigmentosa 1
Myopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of peripheral v... OMIM:180100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Reduced visual acuity, Visual impairment OMIM:616335
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Central scotoma, ... OMIM:165500
Retinitis Pigmentosa 60
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:613983
Achromatopsia
Myopia, Monochromacy, Hypermetropia, Hypoplasia of the fovea, Central scotoma, Retinal pigment ep... ORPHA:49382
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Peripheral ret... OMIM:601813
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Large central visual field defect, Macular edema, Macular degeneration, ... ORPHA:411527
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Leber Congenital Amaurosis 2
Reduced visual acuity, Blindness, Fundus atrophy, Pigmentary retinopathy, Photophobia OMIM:204100
Cone-Rod Dystrophy 20
Central scotoma, Reduced visual acuity, Constriction of peripheral visual field, Color vision def... OMIM:615973
Blue Cone Monochromacy
Myopia, Blue cone monochromacy, Reduced visual acuity, Abnormality of macular pigmentation, Photo... OMIM:303700
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Reduced visual acuity, Scotoma OMIM:165300
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Nyctalopia, Retinal atrophy, Rod-cone dystrophy OMIM:616544
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Reduced visual acuity, Visual impairment OMIM:610156
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Reduced visual acuity, Rod-cone dystrophy, Congenital blind... OMIM:613341
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy OMIM:619090
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Cone-Rod Dystrophy, X-Linked, 3
Myopia, Optic disc pallor, Central scotoma, Reduced visual acuity, Retinal detachment, Abnormalit... OMIM:300476
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Reduced visual acuity, Macular e... ORPHA:209943
Jalili Syndrome
Monochromacy, Optic disc pallor, Photophobia, Cone/cone-rod dystrophy, Nyctalopia OMIM:217080
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Hypermetropia, Retinal degeneration, Constriction of peripheral visual field, Ny... OMIM:267760
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Leber Congenital Amaurosis 16
Optic disc pallor, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment OMIM:614186
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinal Cone Dystrophy 3B
Myopia, Macular atrophy, Scotoma, Photophobia, Cone/cone-rod dystrophy, Nyctalopia OMIM:610356
Retinitis Pigmentosa 51
High myopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairment, R... OMIM:613464
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration OMIM:613767
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Hypermetropia, Macular coloboma, Attenuation of retinal blood v... OMIM:608553
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Peripheral ... OMIM:305390
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:613756
Retinal Dystrophy And Obesity
Myopia, Retinal dystrophy, Peripapillary atrophy, Reduced visual acuity, Retinal pigment epitheli... OMIM:616188
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Progressive visual loss, High myopia, Paracentral scotoma, Constriction of ... OMIM:210370
Retinal Cone Dystrophy 1
Retinal degeneration, Progressive visual loss, Bull's eye maculopathy, Color vision defect, Photo... OMIM:180020
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612572
Cone-Rod Dystrophy 3
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... OMIM:604116
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Progressive visual loss, Rod-cone dystroph... OMIM:204200
Retinitis Pigmentosa 83
Vitreous floaters, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:618173
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Photophobia, Choro... ORPHA:179
Bardet-Biedl Syndrome 21
Myopia, Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone d... OMIM:617406
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Abnormal fundus morphology, Abnormality of the optic nerve, Rod-cone dystrophy, Attenuation of re... ORPHA:436274
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Blindn... OMIM:605549
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Morm Syndrome
Retinal dystrophy, Progressive night blindness, Visual impairment, Retinal atrophy ORPHA:75858
Retinitis Pigmentosa 77
Reduced visual acuity, Rod-cone dystrophy, Cystoid macular edema, Nyctalopia, Retinal atrophy OMIM:617304
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Blin... ORPHA:141
Peripheral Cone Dystrophy
Optic atrophy, Pericentral scotoma, Optic disc pallor, Peripheral retinal degeneration, Paracentr... OMIM:609021
Usher Syndrome, Type 1M
Optic disc pallor, Nyctalopia, Drusen OMIM:618632
Leber Congenital Amaurosis 15
Myopia, Optic disc pallor, Retinal degeneration, Hypermetropia, Visual impairment, Rod-cone dystr... OMIM:613843
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Chorioretinal Atrophy, Progressive Bifocal
Myopia, Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy, Visual impairment OMIM:600790
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Idiopathic Uveal Effusion Syndrome
Retinal fold, Exudative retinal detachment, Metamorphopsia, Visual field defect, Reduced visual a... ORPHA:209956
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral regurgitation, Central scotoma, Visual... OMIM:616648
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Retinitis Pigmentosa 66
Optic disc pallor, Central scotoma, Reduced visual acuity, Visual impairment, Rod-cone dystrophy,... OMIM:615233
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Visual field defect, Abnormality of vision, Color vision de... ORPHA:99000
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment OMIM:164100
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Central scotoma, Reduced visual acuity, Color vision defect, Blind-spot enlarg... OMIM:616732
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Leber Congenital Amaurosis 1
Reduced visual acuity, Blindness, Fundus atrophy, Pigmentary retinopathy, Photophobia OMIM:204000
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration OMIM:610381
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Visua... OMIM:615147
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Progressive visual loss, Macular degeneration, Blindness OMIM:256730
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:180105
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Chromosome Xq21 Deletion Syndrome
Choroideremia, Progressive visual loss, Chorioretinal degeneration, Constriction of peripheral vi... OMIM:303110
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613810
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Optic atrophy, Optic disc pallor, Central scotoma, Reduced visual ac... OMIM:612989
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Progressive visual loss, Central scotom... ORPHA:52427
Gyrate Atrophy Of Choroid And Retina
Myopia, Progressive visual loss, Chorioretinal degeneration, Constriction of peripheral visual fi... ORPHA:414
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... OMIM:145350
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr... OMIM:616468
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Constriction of p... OMIM:602772
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Abnormality of the optic disc, Reduced visual acuity, Blindness, Retinal vascu... ORPHA:440727
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Central scotoma, Retinal pigment epithelial mottling, Ro... ORPHA:284454
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Congenital Glaucoma
Retinal detachment ORPHA:98976
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Sandhoff Disease
Blindness, Congestive heart failure, Cherry red spot of the macula ORPHA:796
Åland Islands Eye Disease
Myopia, Hypoplasia of the fovea, Reduced visual acuity, Hypopigmentation of the fundus, Color vis... ORPHA:178333
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Leber Congenital Amaurosis 11
Reduced visual acuity, Visual impairment OMIM:613837
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... OMIM:600132
Retinitis Pigmentosa 72
Optic disc pallor, Peripapillary atrophy, Reduced visual acuity, Rod-cone dystrophy, Constriction... OMIM:616469
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Rod-cone dystrophy OMIM:618220
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... OMIM:125250
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Albinism, Oculocutaneous, Type Vi
Visual impairment, Photophobia, Reduced visual acuity, Hypoplasia of the fovea OMIM:113750
Oculocutaneous Albinism Type 6
Abnormal fundus morphology, Aplasia/Hypoplasia of the macula, Reduced visual acuity, Abnormal fov... ORPHA:370097
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Corneal Dystrophy, Avellino Type
Reduced visual acuity, Visual impairment OMIM:607541
Cone-Rod Dystrophy 10
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Peripheral visual field loss, ... OMIM:610283
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Nyctalopia, Chorioretinal atrophy OMIM:258870
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Rod-cone dystrophy, Nyctalopia, Pigmentary retinopathy, Visual impairment OMIM:600151
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Foveal Hypoplasia 2
Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting,... OMIM:609218
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Progressive visual loss, Optic atrophy, Blindness, Visual loss OMIM:601338
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Abnormal visual field test, Retinal pigment epi... ORPHA:644
Nystagmus 1, Congenital, X-Linked
Mildly reduced visual acuity, Reduced visual acuity OMIM:310700
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:1466
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal dystrophy, Central scotoma, Nyctalopia, Photophobia OMIM:617547
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... ORPHA:816
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Bardet-Biedl Syndrome 5
Macular dystrophy, Reduced visual acuity, Rod-cone dystrophy OMIM:615983
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy OMIM:268100
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Blindne... ORPHA:791
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Reduced visual acuity, Retinal thinning OMIM:618970
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Neovascular Glaucoma
Abnormality of the optic nerve, Retinal vascular proliferation, Visual acuity test abnormality, V... ORPHA:94058
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Progressive visual loss, Central scotoma, Reduced visual acuity... ORPHA:98890
Bardet-Biedl Syndrome 4
Retinal degeneration, Nyctalopia, Rod-cone dystrophy OMIM:615982
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Aganglionic megacolon, White eyelashes, White forelock, Abno... ORPHA:897
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Norrie Disease
Optic atrophy, Retinal fold, Retinal dysplasia, Retinal detachment, Blindness OMIM:310600
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Myopia, Progressive visual loss, Peripheral retinal degeneration, Central retinal exudate, Dyschr... OMIM:264420
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Abnormality of visual evoked po... ORPHA:96
Optic Pathway Glioma
Optic atrophy, Reduced visual acuity, Visual field defect, Visual loss, Papilledema, Blindness ORPHA:2086
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Optic disc drusen, Retinal pigment epithelial mottling, Retina... ORPHA:364055
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Ethanolaminosis
Cardiomegaly OMIM:227150
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Leber Congenital Amaurosis 8
High hypermetropia, Choriocapillaris atrophy, Reduced visual acuity, Visual impairment OMIM:613835
Macrophthalmia, Colobomatous, With Microcornea
Myopia, Macular atrophy, Reduced visual acuity OMIM:602499
Myopia 22, Autosomal Dominant
Myopia, Reduced visual acuity, Visual impairment OMIM:615420
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Reduced visual acuity, Hypoplasia of the fovea, Photophobia OMIM:619165
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment OMIM:212550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Night Blindness, Congenital Stationary, Type 1C
Myopia, Reduced visual acuity, Congenital stationary night blindness OMIM:613216
Coloboma Of Macula
Macular coloboma OMIM:120300
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... ORPHA:1215
Keratoconus 9
Reduced visual acuity OMIM:617928
Retinal Aplasia
Congenital blindness OMIM:179900
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Cone-Rod Dystrophy 6
Macular atrophy, Hemeralopia, Reduced visual acuity, Progressive night blindness, Peripheral visu... OMIM:601777
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Central scotoma, Reduced visual acuity, Visual impairment OMIM:615035
Idiopathic Panuveitis
Vitreous floaters, Choroidal neovascularization, Reduced visual acuity, Abnormality of vision, Vi... ORPHA:280921
Spastic Paraplegia 81, Autosomal Recessive
Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Retinal vascular tortuosity OMIM:618768
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity OMIM:618770
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia OMIM:613154
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Blindness, Macular degeneration ORPHA:1573
Krabbe Disease
Abnormal flash visual evoked potentials, Optic atrophy, Blindness, Decreased nerve conduction vel... OMIM:245200
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Progressive visual loss, Rod-cone dystrophy, Co... ORPHA:436245
Methanol Poisoning
Cerebral hemorrhage, Abnormality of the optic nerve, Hypertension, Intracranial hemorrhage, Perma... ORPHA:31825
Sarcosinemia
Hypertrophic cardiomyopathy, Optic atrophy, Congenital blindness, Pulmonic stenosis ORPHA:3129
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Blindness, Retinopathy ORPHA:216873
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Retinitis Pigmentosa 89
Rod-cone dystrophy, Constriction of peripheral visual field, Nyctalopia, Retinal thinning, Hypera... OMIM:618955
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Decreased sensory nerve conduction velocity, Bone spicule ... OMIM:609033
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Myopia, Abnormality of retinal pigmentation, Visual loss, Retinopath... ORPHA:5
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Wolff-Parkinson-White syndrome, Reduced visual acuity, Visual impairment OMIM:614947
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Leber Congenital Amaurosis 6
High hypermetropia, Photophobia, Severely reduced visual acuity, Attenuation of retinal blood ves... OMIM:613826
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Reduced visual acuity, Rod-cone dystrophy OMIM:615434
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Osteoporosis-Pseudoglioma Syndrome
Severely reduced visual acuity, Exudative vitreoretinopathy, Moderately reduced visual acuity, Ab... ORPHA:2788
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Brain atrophy, Pigmentary retinopathy OMIM:619059
Severe Canavan Disease
Optic atrophy, Blindness ORPHA:314911
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy ORPHA:370968
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cerebellar atrophy ORPHA:3085
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Hypogonadism, Male
Hypospadias, Micropenis, Male hypogonadism, Testicular atrophy OMIM:241100
Infantile Refsum Disease
Optic atrophy, Facial palsy, Cardiomyopathy, Rod-cone dystrophy, Constriction of peripheral visua... ORPHA:772
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Blindness, Myopia OMIM:615181
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Cerebellar atrophy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Cognitive impairment, Ataxia OMIM:613909
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Photophobia, Amblyopia, Reduced... ORPHA:352731
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Cognitive impairment, Progressive cerebellar ataxia, Male infert... ORPHA:276183
Night Blindness, Congenital Stationary, Type 1H
Mild myopia, Hypermetropia, Nyctalopia, Photophobia OMIM:617024
Aland Island Eye Disease
Myopia, Hypoplasia of the fovea, Severely reduced visual acuity OMIM:300600
Night Blindness, Congenital Stationary, Type1I
Nyctalopia, Tritanomaly OMIM:618555
Corneal Dystrophy, Gelatinous Drop-Like
Blurred vision, Reduced visual acuity, Visual impairment, Photophobia OMIM:204870
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:2518
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Friedreich Ataxia
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Abnormality of visual evoked... OMIM:229300
Night Blindness, Congenital Stationary, Type 1B
Myopia, Hemeralopia, Nyctalopia, Congenital stationary night blindness OMIM:257270
Pseudoxanthoma Elasticum
Hypertension, Retinal hemorrhage, Renovascular hypertension, Angina pectoris, Choroidal neovascul... OMIM:264800
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia ORPHA:324416
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... OMIM:615986
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pigmentary retinopathy OMIM:606721
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy ORPHA:100996
Retinal Venous Beading
Retinal neovascularization, Abnormal distribution of retinal arterioles and venules, Retinal infa... OMIM:180080
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Kennedy Disease
Testicular atrophy, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Decreased ... ORPHA:481
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Retinal degeneration, Large central visual field defect, Tachycardia, Visual l... ORPHA:79264
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Refsum Disease, Classic
Retinal degeneration, Cardiomyopathy, Rod-cone dystrophy, Congestive heart failure, Nyctalopia, A... OMIM:266500
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Abnormal best corrected vi... ORPHA:137902
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Chorioretinal coloboma, Generalized hyperpigmentation, Melan... ORPHA:2481
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Blindness OMIM:617914
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Blindness, Abnormal autonomic nervous system physiology OMIM:598500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:613156
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Reduced visual acuity, Rod-cone dystrophy OMIM:619082
Oculocutaneous Albinism Type 5
Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Phot... ORPHA:370091
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Glucose... OMIM:235200
Leber Congenital Amaurosis 3
Visual loss, Constriction of peripheral visual field, Nyctalopia OMIM:604232
Retinitis Pigmentosa And Erythrocytic Microcytosis
Myopia, Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial at... OMIM:616959
Xylosidase Deficiency
Blindness OMIM:278900
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Leukodystrophy, Hypomyelinating, 14
Blindness OMIM:617899
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Blindness, Pulmonary embolism OMIM:614514
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Usher Syndrome
Hypertrophic cardiomyopathy, High hypermetropia, Abnormality of retinal pigmentation, Myopia, Pro... ORPHA:886
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... OMIM:601152
Nephronophthisis 14
Retinal degeneration OMIM:614844
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Moderately reduced visual acuity, Chorioretinal coloboma, Severely reduced visual acuity, Retinal... ORPHA:2921
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Reduced visual acuity, Visual impairment, Absent retinal pigment epithelium OMIM:122430
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Oligospermia, Abnormal sperm morphology, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Optic nerve hypoplasia, Reduced visual acuity, Remnants of the hyaloid vas... OMIM:165550
Late Infantile Neuronal Ceroid Lipofuscinosis
Myopia, Abnormality of visual evoked potentials, Retinal degeneration, Reduced visual acuity, Vis... ORPHA:168491
Cataract 11, Multiple Types
Blindness OMIM:610623
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:270500
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Joubert Syndrome 3
Retinal dystrophy, Pigmentary retinopathy OMIM:608629
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Hypoplasia of the retina, Congenital blindness OMIM:263100
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Retinal Dystrophy With Or Without Extraocular Anomalies
Retinal dystrophy, Reduced visual acuity OMIM:617175
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Cerebral cortic... ORPHA:1493
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Lethargy, Infertility, Amenorrhea, Hyperglycemia, Hypogonadotro... ORPHA:465508
Spinocerebellar Ataxia Type 7
Abnormal fundus morphology, Hemeralopia, Reduced visual acuity, Macular degeneration, Visual loss... ORPHA:94147
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness OMIM:607674