Hereditary Microcephaly and Retinal Folds

Abstract

Abstract: : Purpose: To report an unusual condition associated with a retinal fold. Methods: Report of a 6-month-old female with a retinal fold when Retinopathy of Prematurity (ROP) and Familial Exudative Retinopathy (FEVR) were ruled out. Genetic testing and consultation were obtained. Results: Investigation of a 6-month-old female revealed hereditary microcephaly, retinal fold in one eye, and persistent fetal vasculature (PFV) in the other. Conclusions: Retinal folds can occur in association with hereditary microcephaly.

Keywords: retina • retinal degenerations: hereditary • retinal development