裂孔原性網膜剥離例を発端者とする家族性滲出性硝子体網膜症の19家系

Clinical manifestations of familial exudative vitreoretinopathy associated with rhegmatogenous retinal detachment

　裂孔原性網膜剥離例を発端者とする家族性滲出性硝子体網膜症（FEVR）19家系53例を調査し，FEVRの眼底表現型と剥離の関連性，および家系内での剥離関連病変について検討した。FEVRの表現型は発端者の剥離眼で周辺部変性型が16眼（84％）と大多数を占め，牽引乳頭型2眼（11％），鎌状剥離型1眼（5％）で周辺部変性型が剥離との関連において最も重要と考えられた。また家族内では39例のFEVRを確認し，周辺部変性型が66眼（85％）を占め，本型を見逃さないことがFEVR診断の鍵であると考えられた。また発端者の家族で裂孔形成13眼，網膜剥離1眼，網膜剥離の既往2眼で計16眼（21％）に剥離関連病変がみられた。以上からFEVRは裂孔原性網膜剥離の基礎疾患として充分に認識する必要がある。

Clinical and genealogical studies of rheg-matogenous retinal detachment (RRD) led to the detection of familial exudative vitreoretinopathy in 58 members in 19 families. The state of FEVR in the intial 19 eyes with RRD was classified as periph-eral avascular type in 16 eyes (84%), as dragged disc type in 2 (11%) and as congenital retinal fold type in 1 (5%). We then evaluated the state of FEVR in the group excluding the 19 patients with RRD. Out of 78 eyes of 39 subjects, 66 eyes (85%)were assigned to the peripheral avascular type, 7 (9%) to the dragged disc type and 3 (4%) to the congenital retinal fold type. Sixteen eyes in these eyes (21%) showed pathological findings predispos-ing to RRD : retinal breaks in 13 eyes, RRD in 1 and past history of RRD in 2.

Fluorescein angiography was performed in 12 out of the 19 eyes with RRD. The retinal breaks were located in the avascular peripheral retina just peripheral to the line of demarcation.

The findings point to the importance of periph-eral avascular type of FEVR as one of the major causes of RRD.