1. [Stickler syndrome with rhegmatogenous retinal detachment].
- Author
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Watanabe H, Kohzaki K, Kubo H, Okano K, Watanabe A, and Tsuneoka H
- Subjects
- Child, Cleft Palate, Eye Diseases diagnosis, Eye Diseases genetics, Fibrillar Collagens genetics, Genes, Dominant, Humans, Injections, Intraocular, Male, Mutation, Nose abnormalities, Retinal Detachment diagnosis, Retinal Detachment genetics, Scleral Buckling, Silicone Oils administration & dosage, Syndrome, Vitrectomy, Eye Diseases therapy, Myopia, Retinal Detachment therapy, Vitreous Body
- Abstract
Background: Stickler syndrome is an autosomal dominant disease characterized by various disorders of the eyes and the connective tissues throughout the body. It can arise from a mutation in the collagen associated gene. We present a case of Stickler syndrome with rhegmatogenous retinal detachment., Case: A 10-years-old boy was referred to us with rhegmatogenous retinal detachment of the right eye. His family history included eye disease and a cleft palate. He had high myopia, vitreous liquefaction and lattice degeneration in the both eye. He also had a cleft palate and a broad nasal bridge. His condition was diagnosed as Stickler syndrome. We performed vitrectomy, scleral buckling and encircling, and silicone oil injection in the right eye. We also did a reattachment of the retina in the right eye., Conclusions: Pediatric retinal detachment may indicate the presence of Stickler syndrome and a complete examination of the eye as well as a full family history must be obtained in such cases.
- Published
- 2010