Hereditary juvenile macular dystrophy: A series of three cases

Abstract

Hereditary juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder caused by mutations in the CDH3 gene. The “ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome” (EEMS) is caused by the CDH3 mutation and is characterized by macular dystrophy, hypotrichosis, dysplastic nails, partial anodontia, and various limb defects. We present a series of three cases with HJMD. The important clinical features, ocular and systemic, and genetic tests performed are highlighted in our case series.