An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report
Several subtypes of Stickler syndrome have been reported in medical literature, greatly varying in clinical manifestations. Many different mutations in the gene <i>COL11A1</i> have been discovered and are typically associated with Stickler syndrome type 2. To our best knowledge, this is the first report of a patient with a mutation in the <i>COL11A1</i> gene presenting with a hypopigmented spotted retina.
Authors
- Monja Michelitsch
- Laura Posch-Pertl (ORCID: https://orcid.org/0000-0001-6394-6459)
- Jasmin Blatterer
- Steven James Kamper (ORCID: https://orcid.org/0000-0003-3012-5499)
- Martina Brandner (ORCID: https://orcid.org/0000-0001-8909-627X)
- Hans‐Volker Tichy
- Tobias Peschaut
- Lisa Ofner-Ziegenfuss
Institutions
- Medical University of Graz (AT)
Publication Details
- Journal
- Case Reports in Ophthalmology
- Published
- 2025-01-10
- DOI
- https://doi.org/10.1159/000542708
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00