Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin

Autor: Young Hoon Jung, Jay Jiyong Kwak, Kwangsic Joo, Hyuk Jun Lee, Kyu Hyung Park, Min Seok Kim, Eun Kyoung Lee, Suk Ho Byeon, Christopher Seungkyu Lee, Jinu Han, Junwon Lee, Chang Ki Yoon, Se Joon Woo
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Frontiers in Genetics, Vol 14 (2023)
Druh dokumentu: article
ISSN: 1664-8021
DOI: 10.3389/fgene.2023.1240067
Popis: Purpose: To investigate the clinical features, natural course, and genetic characteristics of Koreans with rhodopsin-associated retinitis pigmentosa (RHO-associated RP).Design: We conducted a retrospective, multicenter, observational cohort study.Participants: We reviewed the medical records of 42 patients with RHO-associated RP of 36 families who visited 4 hospitals in Korea.Methods: Patients with molecular confirmation of pathogenic variants of the RHO gene were included. The patients were divided into two subgroups: the generalized and sector RP groups. A central visual field of the better-seeing eye of
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