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Updated: Jun 27, 2026
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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.
Journal of Vitreoretinal Diseases
|January 2, 2025
Summary
Stickler syndrome can cause macular chorioretinal atrophy in children. Optical coherence tomography (OCT) aids in diagnosing this collagen disorder, essential for early vision management.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Stickler syndrome is a genetic connective tissue disorder.
- Ocular manifestations are common but varied.
- Macular involvement is less frequently reported.
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