A novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome

This study reports, for the first time, the clinical manifestations associated with a novel <i>COL2A1</i> exon 50 mutation in a family with predominantly ocular Stickler syndrome. Our findings expand the known mutational spectrum of <i>COL2A1</i> and further illustrate the phenotypic variability of an ocular variant of Stickler syndrome type I with minimal systemic manifestations. These results highlight the importance of early screening in individuals at risk to enable timely diagnosis and management.