| H01890 | |
| H number | H01890 |
| Name | Pattern dystrophies of the retinal pigment epithelium; Patterned macular dystrophy; Butterfly-shaped macular dystrophy |
| Description | Patterned macular dystrophy (MDPT) represent a group of autosomal dominant heterogeneous disorders characterized by the development of a variety of patterns of yellow-orange-grayish pigment deposition above the RPE within the macular area. From middle age, affected individuals present with either normal or slightly diminished best corrected visual acuity (BCVA) and color vision; the activity of the RPE as measured by electro-oculogram (EOG) recordings may be abnormal. The disease is relatively benign, but it can progress with age to chorioretinal atrophy in the parafoveal and peripapillary regions. |
| Category | Nervous system disease |
| Network | - |
| Gene | (MDPT1) PRPH2 [HSA:5961] [KO:K17343] (MDPT2) CTNNA1 [HSA:1495] [KO:K05691] (MDPT3) MAPKAPK3 [HSA:7867] [KO:K04444] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9B70 ICD-10: H35.5 MeSH: C536309 OMIM: 169150 608970 617111 |
| Reference | PMID:24163680 AUTHORS Esteves F, Dolz-Marco R, Hernandez-Martinez P, Diaz-Llopis M, Gallego-Pinazo R TITLE Pattern dystrophy of the macula in a case of steinert disease. JOURNAL Case Rep Ophthalmol 4:129-33 (2013) DOI:10.1159/000355385 PMID:8485574 (PRPH2) AUTHORS Nichols BE, Sheffield VC, Vandenburgh K, Drack AV, Kimura AE, Stone EM TITLE Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. JOURNAL Nat Genet 3:202-7 (1993) DOI:10.1038/ng0393-202 PMID:26691986 (CTNNA1) AUTHORS Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI TITLE Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. JOURNAL Nat Genet 48:144-51 (2016) DOI:10.1038/ng.3474 PMID:26744326 (MAPKAPK3) AUTHORS Meunier I, Lenaers G, Bocquet B, Baudoin C, Piro-Megy C, Cubizolle A, Quiles M, Jean-Charles A, Cohen SY, Merle H, Gaudric A, Labesse G, Manes G, Pequignot M, Cazevieille C, Dhaenens CM, Fichard A, Ronkina N, Arthur SJ, Gaestel M, Hamel CP TITLE A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. JOURNAL Hum Mol Genet 25:916-26 (2016) DOI:10.1093/hmg/ddv624 |