COL2A1 Mutation Causing Pediatric Macular Chorioretinal Atrophy Associated With Stickler Syndrome.

Abstract

Purpose: To report a case of macular chorioretinal atrophy associated with Stickler syndrome in a pediatric patient with a genetically confirmed COL2A1 mutation. Methods: A single case was evaluated. Results: A 3-year-old girl was found to have macular chorioretinal atrophy in the right eye and a retinal detachment in the left eye. Optical coherence tomography (OCT) showed macular chorioretinal atrophy and retinal thinning in the right eye. Conclusions: Macular chorioretinal atrophy can occur in Stickler syndrome. OCT imaging can be an important tool to characterize and differentiate these lesions from infectious or degenerative processes. These macular findings in collagen disorders can affect vision, making disease identification essential for early diagnosis and management.