An Unusual Retinal Presentation of a Novel <i>COL11A1</i> Mutation: A Case Report.

ABSTRACT:

Introduction

Stickler syndrome is a rare collagenopathy, caused by mutations in various genes coding for fibrillar collagens II, IX, and XI. The disorder can be subdivided into different groups, depending on the genes affected and clinical features found in patients. Ocular symptoms, such as high myopia, retinal detachments, or anomalies in the vitreous, are present in most forms of Stickler syndrome. In this case report, we present a patient with an unusual retinal phenotype.

Case presentation

Subject of this case report is a 33-year-old woman, who was examined at the Department of Ophthalmology at Medical University of Graz. A thorough ophthalmological examination was conducted, detailed medical and family history acquired, and genetic testing performed. Best corrected vis

SUBMITTER: Peschaut T 

PROVIDER: S-EPMC11842027 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature