1/2. Familial exudative vitreoretinopathy.Two sisters and a brother with the syndrome of familial exudative vitreoretinopathy are described (FEV). Findings associated with this condition include temporal neovascularization, vitreous hemorrhage, and retinal detachment. Familial exudative vitreoretinopathy is a genetic syndrome with nearly complete penetrance but widely variable expressivity. The differential diagnosis is fairly extensive. This condition is sometimes confused with retrolental fibroplasia, and FEV is probably a more frequently occurring disease than previously thought, because of confusion with RLF. The pathophysiologic mechanism, natural history, and optimal treatment of this disease are matters of debate. With active surgical management, three of the four eyes which presented to us for treatment have visual acuity of 20/30 or better.- - - - - - - - - - ranking = 1keywords = vitreoretinopathy (Clic here for more details about this article) |
2/2. Ocular findings in cutis marmorata telangiectatica congenita. Bilateral exudative vitreoretinopathy.BACKGROUND: Cutis marmorata telangiectatica congenita is a rare, cutaneous, reticulated, vascular anomaly characterized by congenital persistent cutis marmorata, telangiectasis, and phlebectasis. While systemic abnormalities frequently are associated with cutis marmorata telangiectatica congenita, ophthalmic abnormalities are quite rare and include congenital glaucoma and congenital, bilateral, total retinal detachments with secondary glaucoma. methods: The authors report a case of bilateral, tractional retinal detachments associated with peripheral fibrovascular proliferation simulating familial exudative vitreoretinopathy in a female child with cutis marmorata telangiectatica congenita. Molecular genetic analysis of the Norrie's disease gene was performed. RESULTS: After vitrectomy, the posterior poles of both eyes were reattached successfully. No abnormalities of the Norrie's disease gene were identified. CONCLUSIONS: Bilateral exudative vitreoretinopathy is a rare ophthalmic manifestation associated with cutis marmorata telangiectatica congenita.- - - - - - - - - - ranking = 1keywords = vitreoretinopathy (Clic here for more details about this article) |