banner
Genes Phenotypes Help, News, Blog

Gene: Prph2 MGI:102791

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
peripherin 2
Synonyms:
Tspan22,  Nmf193,  rds,  Rd2

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 Prph2 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 predicted to be associated to Prph2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinitis Pigmentosa 24
Cone dystrophy, Rod-cone dystrophy OMIM:300155
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Choroidal Dystrophy, Central Areolar, 3
Drusen, Chorioretinal atrophy OMIM:613144
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Cardiomyopathy OMIM:609016
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia, Retinal degeneration OMIM:617173
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Ceroid Lipofuscinosis, Neuronal, 3
Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degenerati... OMIM:204200
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Vacuolated lymphocytes, Optic atrophy, Retinal degeneration OMIM:256730
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy OMIM:551500
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Nephronophthisis 15
Retinal degeneration OMIM:614845
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration, Cardiomyopathy OMIM:520000
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Ceroid Lipofuscinosis, Neuronal, 5
Vacuolated lymphocytes, Retinal degeneration OMIM:256731
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 29
Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Hemolytic anemia, Neutropenia OMIM:266130
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Nephronophthisis 14
Retinal degeneration OMIM:614844
Congenital Glaucoma
Retinal detachment ORPHA:98976
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, Dilated cardiomyopathy ORPHA:2515
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Rod-cone dystrophy, Retinal degeneration OMIM:615981
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Iris coloboma, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Retinal degeneration OMIM:616896
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Third degree atrioventricular block ORPHA:480
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Acanthocytosis OMIM:200100
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration OMIM:607016
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Hypertension ORPHA:3156
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration OMIM:300438
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thromboc... OMIM:249270
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels OMIM:204000
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Normocytic anemia, Gastrointestinal hemorrhage, Abnormal retinal vascul... ORPHA:247691
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology, Sea-blue his... OMIM:607616
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Congenital Factor Xii Deficiency
Retinal vein occlusion, Retinal arteriolar occlusion ORPHA:330
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Aceruloplasminemia
Anemia, Retinal degeneration OMIM:604290
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus ORPHA:1573
Retinitis Pigmentosa 44
Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613769
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1466
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Retinitis Pigmentosa 20
Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613794
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Ramon Syndrome
Abnormality of retinal pigmentation, Telangiectasia of the skin ORPHA:3019
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:604360
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Congestive h... OMIM:618234
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Acanthocytosis OMIM:615558
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... ORPHA:897
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Thrombocytopenia, Anemia ORPHA:858
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Iris coloboma OMIM:616722
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Hypertension, Melanocytic nevus ORPHA:2801
Maternal Uniparental Disomy Of Chromosome 9
Retinal dysplasia ORPHA:96183
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Absent retinal pigment epithelium, Abnormal fundus morphology, Abnormal optic nerve morphology, R... ORPHA:436274
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Hypertrophic cardio... ORPHA:96
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy OMIM:610127
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R... ORPHA:542306
Coloboma Of Macula
Macular coloboma OMIM:120300
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Retinal dysplasia ORPHA:324416
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin, Splenomegaly, Sea-blue histiocytosis... ORPHA:158029
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy OMIM:616171
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentials, Geogra... OMIM:619260
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Retinal coloboma, Macular coloboma OMIM:107550
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretinal atrophy, Hy... ORPHA:5
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Angioma Serpiginosum
Retinal vascular malformation ORPHA:95429
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy, Abnormal atrioventricular conduction, Cardiomyopathy ORPHA:329336
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration ORPHA:79264
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Pulmonary arterial hypertension OMIM:619059
Optic Atrophy 8
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Optic atrop... OMIM:616648
Desmoid Tumor
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation ORPHA:873
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Cardiomyopathy, Abnormal retinal nerve fiber ... ORPHA:1215
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma OMIM:601794
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Optic atrophy OMIM:252011
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Iris coloboma OMIM:212550
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Facial palsy ORPHA:370968
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia, Iris coloboma OMIM:610202
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Macular Dystrophy, Patterned, 1
Choroidal neovascularization, Absent foveal reflex, Reticular retinal dystrophy, Yellow/white les... OMIM:169150
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Optic atrophy, Iris coloboma, Chorioretinal coloboma ORPHA:1473
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Congenital Rubella Syndrome
Splenomegaly, Abnormality of retinal pigmentation, Thrombocytopenia, Anemia ORPHA:290
Coloboma Of Macula And Skeletal Anomalies
Macular coloboma OMIM:216800
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Joubert Syndrome 22
Coloboma, Retinal dysplasia OMIM:615665
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration OMIM:615249
Nephronophthisis 11
Anemia, Retinal degeneration OMIM:613550
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Splenomegaly, Retinal degeneration OMIM:615630
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Tortuosity of conjunctival vessels ORPHA:284289
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Cln3 Disease
Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, T-wave inv... ORPHA:228346
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Hanac Syndrome
Retinal vascular tortuosity ORPHA:73229
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:391428
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Retinopathy, Retinal degeneration OMIM:252600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Pigmentary retinopathy, Facial palsy OMIM:613156
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... OMIM:264800
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Macrophthalmia, Colobomatous, With Microcornea
Iris coloboma, Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Iris coloboma, Chorioretinal coloboma OMIM:617662
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Heart murmur, Cafe-au-lait s... ORPHA:166035
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Idiopathic Uveal Effusion Syndrome
Superficial episcleral hyperemia, Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Werner Syndrome
Elevated hemoglobin A1c, Retinal degeneration OMIM:277700
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy... OMIM:222300
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cardiomyopathy, Hypopigmentation of the skin,... ORPHA:1493
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Vasculitis, Anemia ORPHA:375
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Vogt-Koyanagi-Harada Disease
Retinal detachment, Poliosis, Hypopigmented skin patches, Premature graying of hair, Vitiligo ORPHA:3437
Refsum Disease
Abnormality of retinal pigmentation, Heart block, Splenomegaly, Cardiomyopathy, Retinopathy ORPHA:773
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Coloboma, Ocular, Autosomal Recessive
Optic disc coloboma, Retinal coloboma, Iris coloboma OMIM:216820
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic... OMIM:600462
Multiple Sulfatase Deficiency
Splenomegaly, Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve... ORPHA:585
Multiple Sulfatase Deficiency
Splenomegaly, Retinal degeneration OMIM:272200
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Optic atrophy, Retinal dysplasia ORPHA:272
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Aceruloplasminemia
Refractory anemia, Abnormality of retinal pigmentation, Congestive heart failure, Hypochromic mic... ORPHA:48818
Mulibrey Nanism
Pigmentary retinopathy, Iris coloboma, Congestive heart failure OMIM:253250
Kearns-Sayre Syndrome
Sideroblastic anemia, Pigmentary retinopathy, Cardiomyopathy, Third degree atrioventricular block... OMIM:530000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Antiphospholipid Syndrome, Familial
Retinal detachment, Autoimmune thrombocytopenia, Vitritis, Central retinal artery occlusion, Reti... OMIM:107320
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Renal Coloboma Syndrome
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia ORPHA:1475
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular fun... ORPHA:3208
Micro Syndrome
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti... ORPHA:2510
Gaucher Disease, Type I
Pancytopenia, Hyperpigmentation of the skin, Macular atrophy, Epistaxis, Hypersplenism, Splenomeg... OMIM:230800
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal sen... ORPHA:88628
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Joubert Syndrome 15
Retinopathy, Coloboma, Retinal dystrophy OMIM:614464
Ectopia Lentis Et Pupillae
Retinal detachment, Iris transillumination defect OMIM:225200
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Pigmentary retinopathy ORPHA:79095
Krabbe Disease
Abnormal flash visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Auto... OMIM:245200
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy OMIM:256600
Fundus Albipunctatus
Retinal flecks, Fundus albipunctatus OMIM:136880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia OMIM:613154
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Megalocornea
Retinal detachment, Iris transillumination defect OMIM:309300
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... ORPHA:423479
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Optic disc pallor, Decreased motor nerve conduction velo... OMIM:601152
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Hypertension, Telangiectasia OMIM:219250
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Ro... ORPHA:157850
Bardet-Biedl Syndrome
Pigmentary retinopathy, Hypertension ORPHA:110
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... OMIM:177850
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Choroidal Dystrophy, Central Areolar 2
Chorioretinal atrophy OMIM:613105
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Optic a... OMIM:216550
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Freckling, Optic atrophy OMIM:610651
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... OMIM:214500
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration ORPHA:2822
Uveal Melanoma
Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology ORPHA:39044
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:609015
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Abnormality of pattern visual evoked potentials ORPHA:1947
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Retinal degeneration OMIM:248500
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Sea-blue histiocytosis, Cherry red spot ... OMIM:257200
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Friedreich Ataxia
Abnormal EKG, Congestive heart failure, Optic atrophy, Abnormality of visual evoked potentials, H... OMIM:229300
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy, Anemia ORPHA:436271
Facioscapulohumeral Dystrophy
Abnormal retinal vascular morphology ORPHA:269
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Lacunar... OMIM:125310
Prolidase Deficiency
Splenomegaly, Abnormality of retinal pigmentation, White forelock ORPHA:742
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Optic atrophy, Wolff-Parkinson-White syndrome OMIM:601338
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Decreased nerve conduction velocity, ... ORPHA:485421
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Iris coloboma, Macular coloboma OMIM:615145
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Keratoconjunctivitis sicca, Retinal degeneration OMIM:618479
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial nerve morpho... ORPHA:247234
Usher Syndrome
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Abnormal cardiovascular system ... ORPHA:886
Peho Syndrome
Undetectable visual evoked potentials, Optic atrophy OMIM:260565
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Abnormal erythrocyte morphology, Optic atrophy, Pigmentary retinopathy, Rod-cone ... ORPHA:96180
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action... OMIM:618733
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Megaloblastic anemia, Pulmonary embolism, Thrombocytopenia, Dilated cardiomyopa... ORPHA:79282
Norrie Disease
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia OMIM:310600
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Congestive heart failure, Abnormal fundus morphology ORPHA:94147
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy, Anemia OMIM:220110
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy, Abno... ORPHA:52368
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia, Hypoplasia of the thymus OMIM:214110
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Pigmentary retinopathy, Mitral regurgitation, ... ORPHA:746
Intermediate Uveitis
Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Vasculitis, Macular edema, O... ORPHA:279914
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Classic Homocystinuria
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Pulmonary e... ORPHA:394
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Splenomegaly, Congestive heart failure, Hepatos... OMIM:309900
Orofaciodigital Syndrome Ix
Retinal coloboma OMIM:258865
Hurler Syndrome
Aortic regurgitation, Splenomegaly, Hepatosplenomegaly, Cardiomyopathy, Mitral regurgitation, Ret... OMIM:607014
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Neurodegeneration With Brain Iron Accumulation 1
Acanthocytosis, Optic atrophy, Pigmentary retinopathy, Retinal degeneration, Hyperpigmentation of... OMIM:234200
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality... OMIM:231550
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Red eye, ... ORPHA:790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Coloboma, Hypoplasia of the retina, Retinal dysplasia, Enlarged f... OMIM:253280
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Keratoconjunctivitis, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy,... OMIM:240300
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Hypopigmentatio... ORPHA:167
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Optic atrophy, Abnormal nerve conduction velocity, Abnor... ORPHA:98755
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy, Vitiligo ORPHA:480898
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy, Telangiectasia OMIM:266270
Kapur-Toriello Syndrome
Retinal coloboma, Iris coloboma ORPHA:2328
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Abnormality of skin ... ORPHA:193
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Optic atrophy, Sea-blue histiocytosis OMIM:230600
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Otodental Syndrome
Lens coloboma, Retinal coloboma, Iris coloboma ORPHA:2791
Coach Syndrome 2
Coloboma, Chorioretinal coloboma OMIM:619111
Abruzzo-Erickson Syndrome
Coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:921
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Abnormal autonomic nervous system physiol... ORPHA:35069
Werner Syndrome
Abnormality of retinal pigmentation, Telangiectasia of the skin, Myocardial infarction, Congestiv... ORPHA:902
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Coloboma, Retinal dys... OMIM:236670
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Retinal degeneration OMIM:208500
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:309256
Papular Xanthoma
Histiocytosis ORPHA:158008
Srd5A3-Cdg
Optic disc hypoplasia, Optic atrophy, Coloboma, Spotty hyperpigmentation, Rod-cone dystrophy ORPHA:324737
Alstrom Syndrome
Cone/cone-rod dystrophy, Congestive heart failure, Dilated cardiomyopathy, Pigmentary retinopathy... OMIM:203800
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Telangiectasia OMIM:612582
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Macular degeneration, Numerous pigmented fre... ORPHA:33364
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy ORPHA:309263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Coloboma OMIM:613153
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage, Granulomatosis, ... OMIM:608710
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Thrombocytopenia, Cong... ORPHA:505248
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Splenomegaly, Subdural hemorrhage, Retinal... ORPHA:90324
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy... ORPHA:90321
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epistaxis, Ocular albini... ORPHA:79430
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Decre... ORPHA:580
Farber Disease
Hepatosplenomegaly, Anemia, Macular degeneration, Cherry red spot of the macula, Thrombocytopenia ORPHA:333
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Coloboma, Aniridia, Macular hypoplasia ORPHA:2334
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:192
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma... ORPHA:320401
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Retinal pigment epithelial mottling, Pr... OMIM:251260
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Thrombocytopenia, Cranial nerve compr... ORPHA:2785
Alport Syndrome
Macular degeneration, Retinal flecks, Hypertension, Anterior lenticonus ORPHA:63
Cockayne Syndrome A
Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Spleno... OMIM:216400
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Chorioretinal atrophy, Retina... OMIM:612109
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Pigmentary retinopathy, Neutropenia, Lymphopenia, Anemia OMIM:618460
Generalized Eruptive Histiocytosis
Spotty hyperpigmentation, Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Mucopolysaccharidosis Type 3
Splenomegaly, Optic atrophy, Atrioventricular block, Pigmentary retinopathy, Reduced left ventric... ORPHA:581
Abetalipoproteinemia
Abnormality of retinal pigmentation, Reticulocytosis, Acanthocytosis, Congestive heart failure, A... ORPHA:14
Say-Barber-Miller Syndrome
Optic atrophy, Abnormal T cell morphology, Macular degeneration, Impaired neutrophil chemotaxis, ... ORPHA:3132
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atrophy, Pigmentary retinopathy, Hy... ORPHA:255210
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Pigmentary retinopathy, Histiocytoid cardiomyopathy, Arrhythmia, ... OMIM:309801
Marcus-Gunn Syndrome
Coloboma, Abnormal fifth cranial nerve morphology, Morning glory anomaly ORPHA:91412
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy OMIM:614225
Microphthalmia, Syndromic 5
Coloboma, Retinal dystrophy, Optic nerve hypoplasia OMIM:610125
Mogs-Cdg
Absent brainstem auditory responses, Optic atrophy, Hepatosplenomegaly, Abnormality of visual evo... ORPHA:79330
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Coloboma, Optic atrophy OMIM:612379
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Orth... ORPHA:309271
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Optic atr... ORPHA:550
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D... ORPHA:466768
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Decre... ORPHA:191
Bohring-Opitz Syndrome
Coloboma, Retinal atrophy, Optic atrophy, Bradycardia ORPHA:97297
Knobloch Syndrome 2
Retinal detachment, Vitreoretinopathy, Vitreous floaters OMIM:618458
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Steinfeld Syndrome
Retinal coloboma, Iris coloboma OMIM:184705
Trisomy 18
Abnormality of retinal pigmentation, Cyclopia, Iris coloboma ORPHA:3380
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... ORPHA:91500
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, C... ORPHA:636
Vici Syndrome
Hypopigmentation of hair, Macular atrophy, Albinism, Congestive heart failure, Dilated cardiomyop... OMIM:242840
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Brushfield spots, Splenomegaly, Optic nerve dyspla... OMIM:614866
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystrophy, Chorioretinal dy... ORPHA:2556
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon, Heart block, Cardiomyopathy, Neutrope... ORPHA:175
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Le... OMIM:259720
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic atrophy, Optic nerve hypoplasia, Coloboma ORPHA:370959
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Optic... ORPHA:217085
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Optic disc pallor, Pigmentary retinopathy OMIM:214100
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Mitral regurgitation, Dilated cardiomyopathy OMIM:607459
White-Sutton Syndrome
Abnormality of visual evoked potentials, Iris coloboma, Rod-cone dystrophy, Optic nerve hypoplasia OMIM:616364
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Optic... ORPHA:217093
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocytosis, Neutrop... OMIM:308240
Griscelli Syndrome Type 2
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair... ORPHA:79477
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Lymphoproliferative Syndrome, X-Linked, 2
Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Joubert Syndrome 5
Rod-cone dystrophy, Retinal coloboma OMIM:610188
Cockayne Syndrome B
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenomegaly, Optic atr... OMIM:133540
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Splenomegaly, Optic atrophy, Pigmentary retinopathy, ... ORPHA:404454
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:507
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hyperpigmentation of the skin, Cardiac conduction abnormality, Thr... ORPHA:699
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Telangiectasia of the skin, Congestive heart failure, Patchy... ORPHA:79474
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Familial Multiple Lipomatosis
Chorioretinitis, Coloboma ORPHA:199276
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... OMIM:601455
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Abnormal macrophage morphology ORPHA:353
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia, Pulmonary hemo... OMIM:619644
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Fair hair, Retinal dystrophy, Hepatosplenomegaly, Macular degeneration, Hypertension, Rod-cone dy... OMIM:266920
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Granuloma, Hemophagocytosis, Hepatosplenomegaly OMIM:619858
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Macular atrophy, Splenomegaly, Polysplenia, Anemia OMIM:619418
Congenital Enterovirus Infection
Abnormal macrophage morphology, Myocarditis, Leukocytosis, Anemia, Leukopenia, Cardiomyopathy, Hy... ORPHA:292
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Abnormal retinal vascul... ORPHA:909
Cystinosis, Nephropathic
Hypopigmentation of the skin, Hypopigmentation of hair, Splenomegaly, Retinal pigment epithelial ... OMIM:219800
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Abnormality of visual evoked potentials, Pulmonary arterial hypertension, Optic ner... ORPHA:667
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h... ORPHA:744
Hardikar Syndrome
Portal hypertension, Hypersplenism, Splenomegaly, Hematemesis, Hepatosplenomegaly, Pigmentary ret... OMIM:301068
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ... ORPHA:206443
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis OMIM:615122
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension, Hypertension, Pulmonary arterial hypertension OMIM:606721
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Hypopigmented skin patches ORPHA:3121
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Aganglionic megacolon, Optic disc coloboma, Coloboma, Chorioretinal colobo... ORPHA:959
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto... OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:267700
H Syndrome
Microcytic anemia, Abnormal cardiovascular system physiology, Hepatosplenomegaly, Facial telangie... ORPHA:168569
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Thauvin-Robinet-Faivre Syndrome
Coloboma, Retinal coloboma OMIM:617107
Listeriosis
Brain abscess, Pericarditis, Liver abscess, Abscess, Congestive heart failure, Myocarditis, Abnor... ORPHA:533
Graft Versus Host Disease
Tachycardia, Hemophagocytosis, Hepatosplenomegaly ORPHA:39812
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Cardiomyopathy, Reduced left ventricular ejection fraction, Abnormality of visual e... ORPHA:258
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Hepatosplenomegaly, Hypertrichotic hyperpigmented patch, Pulmonic stenosis, Facial ... OMIM:602782
Niemann-Pick Disease, Type C1
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells OMIM:257220
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Niemann-Pick Disease, Type C2
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells OMIM:607625
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia, Pulmonic stenosis ORPHA:3455
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Keratoconjunctivitis sicca, Vitiligo,... ORPHA:227990
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Splenomegaly, Congestive ... ORPHA:171
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Keratoconjunctivitis sicca, Vitiligo,... ORPHA:227982
Lysinuric Protein Intolerance
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia, Pulmonary hemorrhage OMIM:222700
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess OMIM:306400
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Granulomatosis, Arteritis, Pulmonary hemorrhage ORPHA:93126
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... ORPHA:64
Lysinuric Protein Intolerance
Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia ORPHA:470
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700

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 Prph2

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 Prph2.

No publications found that use IMPC mice or data for Prph2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Prph2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Prph2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Prph2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter