An unusual retinal presentation of a novel COL11A1 mutation: A case report

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 my...

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Veröffentlicht in:	Case reports in ophthalmology 2025-01, p.1-10
Hauptverfasser:	Peschaut, Tobias, Michelitsch, Monja, Brandner, Martina, Kamper, Sandra, Ofner-Ziegenfuss, Lisa, Blatterer, Jasmin, Tichy, Heidelis Anna, Posch-Pertl, Laura
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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