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A male patient in his 30s, with a history of bilateral microkeratome-assisted myopic laser-assisted in situ keratomileusis (LASIK) 8 years ago at another centre, presented to us with gradually progressive diminution of vision and glare in both eyes for the last 4 years. On presentation, uncorrected distance visual acuity (UDVA) was 6/24 and 6/15 in the right eye and left eye, respectively, with normal intraocular pressures. Slit-lamp examination and anterior segment optical coherence tomography revealed well-defined white deposits, limited to an area within the LASIK flap. The deposits were confluent, at the level of the LASIK flap interface, and few discrete opacities were present in the posterior stroma. His father also had a similar clinical picture in both eyes. A diagnosis of both eyes post-LASIK exacerbation of granular corneal dystrophy with epithelial ingrowth was made. He underwent right eye femtosecond laser-assisted sutureless superficial anterior lamellar keratoplasty. At 6-month follow-up, UDVA improved to 6/12 with graft clarity of 4+ and coexistent grade 1 epithelial ingrowth. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]