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Article

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

BMC ophthalmology - 6 Aug 2024

Liu Xiao, Long Yanling, Wang Yu, Liu Bo, Ren Jiayun, Wang Gang, Wang Min, Meng Xiaohong, Liu Yong

Abstract excerpt

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 genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with...

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Identifiers

PMID: 39107704
DOI: 10.1186/s12886-024-03591-7
PMCID: PMC11302074

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