Human | RDH12 | 145226 | retinol dehydrogenase 12 (all-trans/9-cis/11-cis) | Our studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | AHI1 | 54806 | Abelson helper integration site 1 | Joubert syndrome patients with AHI1 mutations are at risk of developing both retinal dystrophy and progressive kidney disease AHI1 mutations are an important cause of JBS in Dutch patients, and should always be looked for in patients suspected of JBS, especially when retinal dystrophy is present |
Human | AIPL1 | 23746 | aryl hydrocarbon receptor interacting protein-like 1 | aryl hydrocarbon interacting protein-like 1 (AIPL1) mutations may have a role in inherited retinal dystrophies |
Human | CRB1 | 23418 | crumbs homolog 1 (Drosophila) | Two distinct retinal dystrophies with mutations affecting two different genes ABCA4 and CRB1 genes cosegregated in this family |
Human | MERTK | 10461 | c-mer proto-oncogene tyrosine kinase | retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively |
Human | SFRP1 | 6422 | secreted frizzled-related protein 1 | Our data, so far, exclude SFRP1 as a molecular cause of RD (retinal dystrophies) |
Human | RPE65 | 6121 | retinal pigment epithelium-specific protein 65kDa | retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively |
Human | RLBP1 | 6017 | retinaldehyde binding protein 1 | Because of the high density of Alu elements in RLBP1, a systematic search should be made for deletions in this gene when one or both alleles lack point mutations, in the case of RPA or flecked retinal dystrophy Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1 |
Human | PRPH2 | 5961 | peripherin 2 (retinal degeneration, slow) | Macroreticular ('spider-shaped') retinal dystrophy Title:Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.|Association:Not Found|Conclusion:A novel mutation (Pro210Leu) of the peripherin/RDS gene has been found in one Japanese patient with retinitis pigmentosa. The alterations of Val106Val, Glu304Gln, and Gly338Asp may be polymorphic variants in the Japanese population. Reticular ('fishnet-like') retinal dystrophy characteristics of the peripherin/RDS gene & its protein product; overview of spectrum of clinical phenotypes caused by peripherin mutations, ranging from macular dystrophies to widespread forms of retinal dystrophy such as retinitis pigmentosa [review] |
Human | PEX2 | 5828 | peroxisomal biogenesis factor 2 | |
Human | PRPH | 5630 | peripherin | Novel C165R mutation of retinal degeneration slow/peripherin gene in family affected by different patterns of retinal dystrophy |
Human | PGK1 | 5230 | phosphoglycerate kinase 1 | |
Human | PEX1 | 5189 | peroxisomal biogenesis factor 1 | |
Human | LRP2 | 4036 | low density lipoprotein receptor-related protein 2 | |
Human | GUCA1B | 2979 | guanylate cyclase activator 1B (retina) | Mutation in the GCAP 2 gene can cause one form of autosomal dominant retinal dystrophy, with variable phenotypic expression and incomplete penetrance |
Human | GSS | 2937 | glutathione synthetase | Severe glutathione synthetase deficiency is associated with progressive retinal dystrophy of the rod-cone type, affecting the central retina with advanced macular edema in adulthood glutathione synthetase autosomal mutations result in glutathione synthetase deficiency, which may cause progressive retinal dystrophy with hyperpigmentations and maculopathy [case report] |
Human | ABCA4 | 24 | ATP-binding cassette, sub-family A (ABC1), member 4 | In the population studied, ABCA4 plays an important role in the pathogenesis of autosomal recessive cone-rod dystrophy . However, mutations in this gene are less frequently identified in other retinal dystrophies |