Stickler症候群の姉妹例

Stickler syndrome in a pair of female siblings

要約　目的：両Stickler症候群の姉妹例の報告。症例：発端者は9歳女児で，右眼の裂孔原性網膜剝離として紹介され受診した。両眼に軽度の近視と高度な硝子体液化があった。小顎症と鼻根部の平坦化があり，Stickler症候群と診断した。網膜剝離は強膜バックリングでは復位せず，11日後に25ゲージ小切開硝子体手術で復位した。妹の7歳女児には小顎症，鼻根部の平坦化と口蓋裂があり，Pierre-Robin症候群と診断されていた。両眼に約－9Dの近視と高度な硝子体液化があった。母親は17歳のときに網膜剝離手術を受けていた。結論：Stickler症候群が若年者の網膜剝離と関係することがある。本症例での網膜剝離に小切開硝子体手術が奏効した。

Abstract.　Purpose：To report Stickler syndrome in a pair of female siblings. Cases：A 9-year-old girl was referred to us for rhegmatogenous retinal detachment in the right eye. She had moderate myopia and liquefied vitreous. She had also micrognathia and saddle nose,leading to the diagnosis of Stickler syndrome. Retinal detachment persisted after scleral buckling. The retina became reattached after 25-gauge microincision vitreous surgery 11 days later. Her sister,aged 7 years,had been diagnosed with Pierre-Robin syndrome due to micrognathia,cleft palate,and saddle nose. She showed myopia of about －9 diopters with liquefied vitreous in both eyes. Their mother had received surgery for retinal detachment at the age of 17 years. Conclusion：These cases illustrate that Stickler syndrome may be an underlying factor for juvenile retinal detachment,for which microincision vitreous surgery may be effective.