关键词:  , COL2A1基因突变；Stickler综合征

Abstract: Objective To explore the genotypic and phenotypic characteristics of a Yi ethnic family with Stickler syndrome. Design Retrospective case series. Participants Six members of a Yi ethnic family with Stickler syndrome. Methods Detailed ophthalmic examinations were performed on the patients. Peripheral venous blood was collected from family members, and DNA was extracted. Pathogenic gene screening was conducted using next-generation sequencing technology. Sanger sequencing was employed for validation and family co-segregation analysis to identify pathogenic variant sites. The relationship between Stickler syndrome-associated gene variants and clinical features was investigated. Main Outcome Measures Pathogenic gene variants, ocular clinical manifestations, and systemic manifestations. Results The clinical features of the Stickler syndrome patients in this family included high myopia (3 cases), retinal detachment (2 cases), midface flattening (3 cases), and low nasal bridge (3 cases). Genetic sequencing revealed a heterozygous variant in the COL2A1 gene (c.2794C>T, p.) in the proband and four other affected family members, while this variant was absent in the phenotypically normal grandmother. Conclusion This Stickler syndrome family carries a heterozygous variant in the COL2A1 gene (c.2794C>T, p.), presenting with high myopia, retinal detachment, midface flattening, and low nasal bridge. (Ophthalmol CHN, 2025, 34: 142-145)

Key words: COL2A1 gene mutation, Stickler syndrome