Rhegmatogenous Retinal Detachment Secondary to Type I Stickler Syndrome: Diagnosis, Treatment and Long-Term Outcomes.

Abstract

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. 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. 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. 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.