Ophthalmologic Findings in Cerebrofaciothoracic Dysplasia

Abstract

Abstract: : Purpose: To describe the ophthalmologic findings in cerebrofaciothoracic dysplasia. This is a very rare syndrome of unknown etiology, characterized by facial dysmorphism, multiple malformations of the vertebrae and ribs, and significant mental retardation. It is thought that it is inherited by autosomal recessive mode. Only six cases of the syndrome have been described as yet. Methods: Physical and ophthalmologic examination and fundus photographs of two members (a 19-year old girl and a 6-year old boy) of the same family. Results: We describe the ophthalmologic findings of these two new cases of cerebrofaciothoracic dysplasia. Both patients had epicanthic folds and hypertelorism, as previously described. One of the patients had additionally bilateral bull's eye maculopathy. Conclusions: Bull's eye maculopathy may represent an additional, severe manifestation of cerebrofaciothoracic dysplasia syndrome.

Keywords: macula/fovea • retina • genetics