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The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.

Investigative ophthalmology & visual science - 1 Mar 2023

Jiang Yi, Zhou Lin, Wang Yingwei, Ouyang Jiamin, Li Shiqiang, Xiao Xueshan, Jia Xiaoyun, Wang Junwen, Yi Zhen, Sun Wenmin, Jiao Xiaodong, Wang Panfeng, Hejtmancik J Fielding, Zhang Qingjiong

Abstract excerpt

Purpose: In previous studies, biallelic LOXL3 variants have been shown to cause autosomal recessive Stickler syndrome in one Saudi Arabian family or autosomal recessive early-onset high myopia (eoHM, MYP28) in two Chinese families. The current study aims to elucidate the clinical and genetic features of LOXL3-associated MYP28 in seven new families and two previously published families. Methods: LOXL3 variants...

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Identifiers

PMID: 36917121
DOI: 10.1167/iovs.64.3.24
PMCID: PMC10019489

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