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Article

A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome.

Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) - 1 May 2020

Sun Wenmin, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Zhang Qingjiong

Abstract excerpt

PURPOSE: To identify the genetic defect causing early-onset high myopia (eoHM)/ocular-only Stickler syndrome (ocular-STL) in a large Chinese family. METHODS: Genomic DNA and clinical data from a four-generation family with eoHM/ocular-STL were collected. Whole-exome sequencing was performed on one affected member in initial screening. Linkage scan based on microsatellite markers was carried out initially from...

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PMID: 32196734
DOI: 10.1111/opo.12682

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