OCULAR FINDINGS IN CUTIS MARMORATA TELANGIECTATICA CONGENITA - BILATERAL EXUDATIVE VITREORETINOPATHY

Background: Cutis marmorata telangiectatica congenita is a rare, cutan eous, reticulated, vascular anomaly characterized by congenital persis tent cutis marmorata, telangiectasis, and phlebectasis. While systemic abnormalities frequently are associated with cutis marmorata telangie ctatica congenita, ophthalmic abnormalities are quite rare and include congenital glaucoma and congenital, bilateral, total retinal detachme nts with secondary glaucoma. Methods: The authors report a case of bil ateral, tractional retinal detachments associated with peripheral fibr ovascular proliferation simulating familial exudative vitreoretinopath y in a female child with cutis marmorata telangiectatica congenita. Mo lecular genetic analysis of the Norrie's disease gene was performed. R esults: After vitrectomy, the posterior poles of both eyes were reatta ched successfully. No abnormalities of the Norrie's disease gene were identified. Conclusion: Bilateral exudative vitreoretinopathy is a rar e ophthalmic manifestation associated with cutis marmorata telangiecta tica congenita.