Retinal Involvement in Familial Exudative Vitreoretinopathy

Abstract

34 cases of familial exudative vitreoretinopathy were seen during a 40-month period ending April 1981. There were 30 cases from 11 families and 4 sporadic cases. The familial cases showed the mode of inheritance compatible with the autosomal-dominant in heritance. Ophthalmoscopy and super-wide panoramic fluorescein angiography revealed characteristic retinal vascular abnormalities in all cases, embracing supernumerous vascular branchings, arteriovenous shunt formation in the extreme periphery, generalized hyperpermeability of vessels and incomplete arteriovenous interdigitating pattern. Vitreoretinal adhesion was present in the peripheral temporal retina in all cases. An avascular zone wider than 1 disc diameter was noted in the majority of cases in the extreme temporal periphery. A V-shaped retinal degeneration was seen along the temporal meridian in 18 cases (48%). Retinal detachment was present in 19 eyes of 14 cases, and it was rhegmatogenous in 11 and traction-induced in 8 eyes. Retinal exudates and total posterior vitreous detachment was seen only occasionally.

Clinical Characteristics and Surgical Management of Familial Exudative Vitreoretinopathy–associated Rhegmatogenous Retinal Detachment

“…1 Clinical pictures include incomplete vascularization of temporal retina, extensive anastomosis and branching of temporal vessels, herteropia of macula, falciform fold, temporal vascular exudation, and retinal detachment. [2][3][4][5][6] It is one of the major causes of predisposition to juvenile onset of retinal detachment in Asians. [7][8][9] Familial exudative vitreoretinopathy-associated retinal detachment includes rhegmatogenous, tractional, and exudative retinal detachment and was used to be thought of as an uncommon mainly tractional origin disorder with a limited surgical successful rate and guarded visual outcome.…”

Norrie Gene Product Is Necessary for Regression of Hyaloid Vessels

“…The presence of retrolental membranes has been described in patients with retinopathy of prematurity (ROP), [13][14][15][16] familial exudative vitreoretinopathy (FEVR), [17][18][19][20][21][22][23] and persistent hyperplastic primary vitreous (PHPV). 24 -29 In ROP and FEVR, most of the retrolental membranes presumably derive from proliferating retinal vessels, 14,15 whereas in PHPV the fetal vasculature persists in the vitreous body.…”

Inherited Proliferative Vitreoretinopathies of Childhood

“…4 Retinal detachments are relatively common with an incidence ranging between 20% and 32%; rhegmatogenous retinal detachments account for 25% to 63% of the cases. [4][5][6][7] Vitreous bands, adhesions, neovascularization, and fibrovascular proliferation contribute in producing traction on the peripheral retina leading to retinal tears. 4,7,8 Traction retinal detachments are seen occurring typically in childhood.…”