Recent Developments on the major genes involved in retinitis pigmentosa

Autor:	Koukoula Stavrenia Ch, Tranos Paris G, Asteriadis Solon G, Vakalis Thanos N, Balidis Miltos O, Stoimeni Anastasia A, Anogeianakis George A, Sousouras Thanasis Ch, Loukovitis Eleftherios D
Rok vydání:	2020
Předmět:	0301 basic medicine Genetics Retinal dystrophy Usher syndrome Biology medicine.disease Phenotype eye diseases Mini review Pathogenesis 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Retinitis pigmentosa 030221 ophthalmology & optometry medicine Age of onset Gene
Zdroj:	IP International Journal of Ocular Oncology and Oculoplasty. 6:157-166
ISSN:	2581-5016 2581-5024
DOI:	10.18231/j.ijooo.2020.036
Popis:	Retinitis pigmentosa (RP) is a common retinal dystrophy that affects millions of individuals, of both sexes, worldwide. The age of onset and the phenotypic characteristics vary between patients of different ethnicities. It may be syndromic when it coexists with several syndromes, like Usher syndrome, or nonsyndromic. It follows autosomal dominant, autosomal recessive or X-linked inheritance. RP is genetically heterogeneous with, approximately, one hundred genes identified to date. The present mini review includes articles about the pathogenesis of syndromic and non-syndromic RP. Eighty-seven papers written in English and published in the last decade, about the pathogenesis of RP were reviewed and analyzed in order to summarize and highlight the major genes implicated in RP. We identified more than 80 genes associated with syndromic and 30 genes with non-syndromic RP. Among them RHO and RPGR, followed by PRPH2, PRPF31 and RP2 are the major genes involved in RP. Keywords: Autosomal dominant, Autosomal recessive, Genes, Retinitis pigmentosa (RP) Xlinked RP.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::155c726b8653e0e5a61962791cf8e4fa https://doi.org/10.18231/j.ijooo.2020.036 Zobrazit plný text záznamu