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New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy

AIM: To identify a maculopathy patient caused by new recessive compound heterozygous variants in RP1L1. METHODS: Comprehensive retinal morphological and functional examinations were evaluated for the patient with RP1L1 maculopathy. Targeted sequence capture array technique was used to screen potenti...

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Principais autores: Wen-Chao Cao, Qing-Shan Chen, Run Gan, Tao Huang, Xiao-He Yan
Format: Artigo
Sprog:Inglês
Udgivet: Press of International Journal of Ophthalmology (IJO PRESS) 2024-01-01
Serier:International Journal of Ophthalmology
Fag:
maculopathy
recessive
compound heterozygous variants
rp1l1
Online adgang:http://ies.ijo.cn/en_publish/2024/1/20240114.pdf
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