DR. AAFREEN BARI

PROF.RAJESH SINHA

Abstract

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a multi-systemic rare genetic disorder characterized by abnormalities of the immune system. We hereby report the ocular features of APECED in two of four living siblings of an Indian family. The ocular features of this disorder primarily included madarosis, refractive error, heterochromia, corneal opacity and peripheral retinal pigment epithelium degeneration. There is marked phenotypic heterogenicity in this disorder. We found differences even between monozygotic twins. One of the twins had ocular problems, whereas the other did not. The child with corneal involvement was the most symptomatic, however, it did not lead to visual impairment. On genetic workup homozygous p.M1V mutation was found in exon 1 of AIRE gene that has not been studied in Indian subjects of APECED. To the best of our knowledge, there is no report in literature describing the same.