PURPOSE: Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present. METHODS: To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature. CONCLUSION: Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.
PURPOSE:Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present. METHODS: To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature. CONCLUSION: Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.
Authors: Adrián Santana-Ramirez; Felipe Farias-Serratos; José Sanchez-Corona; Gema Castañeda-Cisneros; Nadia M Farias-Serratos Journal: Iran J Public Health Date: 2014-12 Impact factor: 1.429