Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Peschaut, T; Michelitsch, M; Brandner, M; Kamper, S; Ofner-Ziegenfuss, L; Blatterer, J; Tichy, HA; Posch-Pertl, L.
An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report
CASE REP OPHTHALMOL. 2025; 16(1): 62-67.
Doi: 10.1159/000542708
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Peschaut Tobias
- Posch-Pertl Laura
- Co-Autor*innen der Med Uni Graz
- Blatterer Jasmin
- Brandner Martina Christine
- Kamper Sandra
- Michelitsch Monja
- Ofner-Ziegenfuss Lisa
- Tichy Heidelis Anna
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- 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 visual acuity was 20/20 on both eyes; however, impaired binocular vision associated with intermittent exotropia was found. Furthermore, dilated fundoscopy showed an unusual, hypopigmented spotted retinal phenotype. Fundus autofluorescence showed multiple hyperfluorescent spots corresponding with the spotted retinal appearance. Genetic testing revealed a novel variant in the gene COL11A1. No other ocular abnormalities which are associated with COL11A1 were found. CONCLUSION: Several subtypes of Stickler syndrome have been reported in medical literature, greatly varying in clinical manifestations. Many different mutations in the gene COL11A1 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 COL11A1 gene presenting with a hypopigmented spotted retina.
- Find related publications in this database (Keywords)
- Stickler syndrome
- Collagenopathy
- Mutation
- Genetics
- Case report