Three Familial Cases of Stickler Syndrome: A Case Report
10.3341/jkos.2024.65.7.486
- Author:
Jin Wook JUNG
1
;
Sung Hyun AHN
;
In Cheon YOU
;
Min AHN
;
Nam Chun CHO
Author Information
1. Department of Ophthalmology, Jeonbuk National University College of Medicine, Jeonju, Korea
- Publication Type:Case Report
- From:Journal of the Korean Ophthalmological Society
2024;65(7):486-491
- CountryRepublic of Korea
- Language:Korean
-
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.
