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, suc...
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| Format: | Article |
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Karger Publishers
2025-01-01
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| Series: | Case Reports in Ophthalmology |
| Online Access: | https://karger.com/article/doi/10.1159/000542708 |
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| author | Tobias Peschaut Monja Michelitsch Martina Brandner Sandra Kamper Lisa Ofner-Ziegenfuss Jasmin Blatterer Heidelis Anna Tichy Laura Posch-Pertl |
| author_facet | Tobias Peschaut Monja Michelitsch Martina Brandner Sandra Kamper Lisa Ofner-Ziegenfuss Jasmin Blatterer Heidelis Anna Tichy Laura Posch-Pertl |
| author_sort | Tobias Peschaut |
| collection | DOAJ |
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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. |
| format | Article |
| id | doaj-art-8e0a4b53c1cf49be919ebe3ad0e9acfc |
| institution | DOAJ |
| issn | 1663-2699 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Ophthalmology |
| spelling | doaj-art-8e0a4b53c1cf49be919ebe3ad0e9acfc2025-08-20T03:09:47ZengKarger PublishersCase Reports in Ophthalmology1663-26992025-01-01161626710.1159/000542708An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case ReportTobias PeschautMonja MichelitschMartina BrandnerSandra KamperLisa Ofner-ZiegenfussJasmin BlattererHeidelis Anna TichyLaura Posch-Pertl 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. https://karger.com/article/doi/10.1159/000542708 |
| spellingShingle | Tobias Peschaut Monja Michelitsch Martina Brandner Sandra Kamper Lisa Ofner-Ziegenfuss Jasmin Blatterer Heidelis Anna Tichy Laura Posch-Pertl An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report Case Reports in Ophthalmology |
| title | An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report |
| title_full | An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report |
| title_fullStr | An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report |
| title_full_unstemmed | An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report |
| title_short | An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report |
| title_sort | unusual retinal presentation of a novel col11a1 mutation a case report |
| url | https://karger.com/article/doi/10.1159/000542708 |
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