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Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.

Investigative ophthalmology & visual science - 2 Aug 2022

Wang Junwen, Wang Yingwei, Li Shiqiang, Xiao Xueshan, Yi Zhen, Jiang Yi, Li Xueqing, Jia Xiaoyun, Wang Panfeng, Jin Chenjin, Sun Wenmin, Zhang Qingjiong

Abstract excerpt

Purpose: The purpose of this study was to elucidate the genetic basis of 2 distinct phenotypes associated with biallelic variants in RDH12. Methods: Patients with biallelic variants in RDH12 were recruited from our genetic eye clinic. Ocular phenotypes were evaluated. Genotype-phenotype correlations were further clarified using in-house and existing databases. Results: In total, 22 biallelic RDH12 variants,...

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Identifiers

PMID: 35994252
DOI: 10.1167/iovs.63.9.24
PMCID: PMC9419460

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