Falciform retinal fold as sign of familial exudative vitreoretinopathy.

We studied family members of 9 patients with falciform retinal fold, and found a number of cases showing features of familial exudative vitreoretinopathy (FEVR) in the fundi. Retinal fold was also seen in the eye of a cousin of the propositus. Three cases with falciform retinal fold were bilateral and 7 cases were unilateral. Retinal folds were located in the temporal half of the fundis in 11 of the 13 eyes with retinal fold. These 11 eyes showed avascularized zones of retinal vessels with scalloped edges in the periphery; in the 2 remaining eyes the retinal vessels were restricted within the fold. Thirty-one eyes of 18 cases, members of 7 pedigrees, showed features of FEVR. The observed avascularized zones with scalloped pattern of the vessels and vitreoretinal involvements were divided into 3 groups: 23 eyes of stage 1, 6 eyes of stage 2, and 2 eyes of stage 3, respectively. It was, therefore, concluded that falciform retinal fold being located temporally or bilaterally could be one of the signs of FEVR and that FEVR was a disease affecting regression of the hyaloid vascular system and development of the retinal vessels during fetal life. FEVR was classified into 4 groups: type 1, type 2, type 3 and type 4 of falciform retinal fold. The disease may be transmitted as autosomal dominant inheritance.