Ocular features of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a multisystemic rare genetic disorder characterised by abnormalities of the immune system. We report the ocular features of APECED in two siblings of an Indian family, out of four who are still living. The ocular features of this disorder primarily included madarosis, refractive error, heterochromia, corneal opacity and peripheral retinal pigment epithelium degeneration. There is marked phenotypical heterogeneity in this disorder. We found differences even between monozygotic twins. While one of the twins did not have any ocular issues, the other one did. 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 with APECED. To the best of our knowledge, there is no report in literature describing ocular features of APECED in an Indian family with distinctive genetic involvement.