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Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy

Abstract Background Occult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypi...

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Principais autores: Xiao Liu, Yanling Long, Yu Wang, Bo Liu, Jiayun Ren, Gang wang, Min Wang, Xiaohong Meng, Yong Liu
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2024-08-01
Serier:BMC Ophthalmology
Fag:
Occult macular dystrophy
RP1L1 gene
Phenotypic variability
Vitelliform macular dystrophy
Chinese patients
Genetic analysis
Online adgang:https://doi.org/10.1186/s12886-024-03591-7
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