家族性滲出性硝子体網膜症の3表現型が出現した三世代一家系

A pedigree over three generations manifested three phenotypes of familial exudative vitreoretinopathy

　70歳女性の裂孔原性網膜剥離罹患者を発端者とする家族性滲出性硝子体網膜症（FEVR）の1家系を報告した．家系調査の結果，発端者を含む三世代18例36眼のうち，10例19眼にFEVRに特徴的な網膜硝子体病変を認めた．眼底病変の表現型は，三型すべてを含み，鎌状剥離型が2眼，牽引乳頭型が2眼，周辺部変性型が15眼であった．このうち，周辺部変性型の6眼に網膜裂孔を認め，その存在部位はいずれも耳側網膜周辺部の無血管野であった．最近本症は，若年者の裂孔原性網膜剥離の基礎疾患として注目されているが，若年者のみならず高齢者の裂孔原性網膜剥離の基礎疾患としても念頭におく必要があると考えられた．また同一家系にあらゆる表現型を認めたことから，本疾患の遺伝因子は様々な表現型をとりうることが明らかになった．

Diagnosis of rhegmatogenous retinal detachment in a 70-year-old woman led to detection of a pedi-gree of familial exudative vitreoretinopathy (FEVR) including 10 affected cases (19 eyes). These eyes were classified into three types proposed by us. 1) Retinal fold type, characterized by retinal fold from the disc to the temporal periph-ery; 2) dragged disc type, characterized by drag-ged disc and macular displacement; 3) peripheral avascular type, characterized by retinal vascular abnormalities and non-perfusion in the periphery.

The present pedigree included 2 eyes of retinal fold type, 2 of dragged disc type and 15 of periph-eral avascular type. We also detected 6 eyes (32 %) with retinal breaks in the series.

The findings show that the clinical manifestation of the same gene or genes for FEVR may be versa-tile and that eyes with FEVR are prone to retinal breaks and to rhegmatogenous retinal detachment.

Rinsho Ganka (Jpn J Chn Ophthalmol) 42(11) : 1215-1220, 1988