J Korean Ophthalmol Soc.
2024 Jul;65(7):486-491. 10.3341/jkos.2024.65.7.486.
Three Familial Cases of Stickler Syndrome: A Case Report
- Affiliations
-
- 1Department of Ophthalmology, Jeonbuk National University College of Medicine, Jeonju, Korea
- 2Research Institute of Clinical Medicine, Jeonbuk National University, Jeonju, Korea
- 3Biomedical Research Institute, Jeonbuk National University Hospital, Jeonju, Korea
- KMID: 2557628
- DOI: http://doi.org/10.3341/jkos.2024.65.7.486
Abstract
- Purpose
Stickler syndrome, a hereditary connective tissue disorder characterized by mutations in collagen genes, presents with progressive ophthalmopathy and diverse systemic manifestations. Here, we present three familial cases of Stickler syndrome, emphasizing the importance of early detection through clinical investigations and genetic testing.
Case summary
Two generations of a family, a mother and her two daughters, were evaluated for Stickler syndrome. All three exhibited bilateral retinal lattice degeneration, perivascular retinal degeneration, and vitreous liquefaction. The daughters shared characteristic facial features, including a flattened face, broad nasal bridge, and micrognathia. Clinical symptoms and examination findings led to diagnoses of Stickler syndrome. Subsequent genetic testing in five family members confirmed a COL2A1 mutation in the three affected individuals.
Conclusions
Stickler syndrome carries a high risk of vision loss from ocular complications, necessitating early detection and intervention. In addition, the presence of systemic manifestations, such as musculoskeletal joint disorders, mitral valve prolapse, hearing loss, and cleft palate, emphasizes the importance of prompt detection through appropriate clinical investigations and genetic testing.
