Abstract
OBJECTIVE: This study aimed to clarify the genetic diagnosis of rhegmatogenous retinal detachment (RRD) secondary to type I Stickler syndrome (STL1) and evaluate the anatomical and functional outcomes of surgical treatment. METHODS: This retrospective study included 11 patients with RRD secondary to STL1. Familial and sporadic cases of STL1 were diagnosed at the Eye & ENT Hospital, Fudan University, between 2017 and 2023. To clarify the genetic diagnosis, next-generation sequencing was performed in suspected STL1 cases. Further, standard ocular examinations and surgical treatment were performed. RESULTS: Nine variants of COL2A1, including four novel mutations (c.394G>T, c.2977G>T, c.3003+2dup, and c.3853G>C), were screened and identified. The pathogenicity of all variants was conclusively demonstrated. Among patients who underwent vitrectomy, the mean age at RRD was 11.5 years, and the mean follow-up was 32.9 months. The average number of surgical procedures required during the follow-up was two; 90.9% of eyes achieved final attachment, and best corrected visual acuity (BCVA) significantly improved in 81.8% of the eyes, with a middle postoperative logMAR BCVA of 0.52 compared with the preoperative value (p = 0.0148). High intraocular pressure (81.8%) and cataract (72.7%) were the most common complications. CONCLUSIONS: Our study expands the spectrum of COL2A1 mutations and provides a novel diagnostic strategy for STL1. By combining clinical manifestations with genetic testing, STL1 could be accurately diagnosed. With proper surgical treatment and long-term follow-up, the prognosis of RRD in patients with STL1 could be improved.