Related Experiment Video
Updated: Jun 27, 2026
Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
COL2A1 Mutation Causing Pediatric Macular Chorioretinal Atrophy Associated With Stickler Syndrome
Serena Shah1, Francisco Lopez-Font1, Jason Fan1
1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
None:
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.
Related Concept Videos
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...