Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystr...
Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy
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Author / Creator
Liu, Xiao , Long, Yanling , Wang, Yu , Liu, Bo , Ren, Jiayun , wang, Gang , Wang, Min , Meng, Xiaohong and Liu, Yong
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 Vi...
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Full title
Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e4d95a1590de4aea9cf58cc637d6c406
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e4d95a1590de4aea9cf58cc637d6c406
Other Identifiers
ISSN
1471-2415
E-ISSN
1471-2415
DOI
10.1186/s12886-024-03591-7
