COL2A1およびAPC遺伝子変異疑い患者における、連続的両眼網膜剥離修復術

Purpose: To report the case of a 13-year-old boy who underwent immediate sequential bilateral retinal detachment surgery in the setting of Stickler syndrome and familial adenomatous polyposis syndrome. Methods: Retrospective chart review of a single case followed by descriptive analysis. Results: A 13-year-old boy with bilateral rhegmatogenous retinal detachment underwent immediate sequential bilateral vitreoretinal surgery because of socioeconomic limitations that restricted return visits. Intraoperatively, multiple areas of congenital hypertrophy of the retinal pigment epithelium were observed. The patient had a family history of Stickler syndrome and familial adenomatous polyposis. Genetic evaluation revealed pathogenic mutations in COL2A and APC. Conclusions: Complex genetic conditions such as Stickler syndrome and familial adenomatous polyposis require multidisciplinary management. This case underscores the challenges of managing a 13-year-old patient with Stickler syndrome and bilateral retinal detachment. Immediate sequential bilateral vitreoretinal surgery proved effective, highlighting the need for tailored approaches to Stickler syndrome management.