Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.

doi:10.1002/mgg3.1421

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Article

Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.

Molecular genetics & genomic medicine - 1 Oct 2020

Huang Li, Sun Limei, Wang Zhirong, Chen Chonglin, Wang Panfeng, Sun Wenmin, Luo Xiaoling, Ding Xiaoyan

Abstract excerpt

BACKGROUND: X-linked retinoschisis (XLRS) is one type of retinal dystrophy leading to the schisis of the neural retina and causing reduced visual acuity. The study aimed to investigate the clinical manifestations and retinoschisin 1 (RS1) mutations in Chinese patients with early onset XLRS. METHODS: Thirty-eight probands with early onset XLRS were recruited, comprehensive ophthalmic examination was performed. A...

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PMID: 33460243
DOI: 10.1002/mgg3.1421
PMCID: PMC7549600

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