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Nippon Ganka Gakkai Zasshi ; 114(5): 454-8, 2010 May.
Artículo en Japonés | MEDLINE | ID: mdl-20545219

RESUMEN

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.


Asunto(s)
Oftalmopatías/terapia , Miopía , Desprendimiento de Retina/terapia , Cuerpo Vítreo , Niño , Fisura del Paladar , Oftalmopatías/diagnóstico , Oftalmopatías/genética , Colágenos Fibrilares/genética , Genes Dominantes , Humanos , Inyecciones Intraoculares , Masculino , Mutación , Nariz/anomalías , Desprendimiento de Retina/diagnóstico , Desprendimiento de Retina/genética , Curvatura de la Esclerótica , Aceites de Silicona/administración & dosificación , Síndrome , Vitrectomía
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