Ocular features of autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

Area of Science:

• Genetics and Immunology
• Ophthalmology
• Rare Diseases

Background:

• Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare, multisystemic genetic disorder.
• It is characterized by immune system abnormalities, affecting various organs.
• Ocular manifestations, though not always prominent, are part of the APECED phenotype.

Observation:

• Ocular features were studied in two siblings from an Indian family with APECED.
• Observed ocular findings included madarosis, refractive errors, heterochromia, corneal opacity, and peripheral retinal pigment epithelium degeneration.
• Significant phenotypical heterogeneity was noted, with differing ocular involvement even between monozygotic twins.

Findings:

• Homozygous p.M1V mutation in the AIRE gene was identified in the affected siblings.
• This specific mutation in the AIRE gene has not been previously reported in Indian APECED subjects.
• Corneal involvement was the most symptomatic ocular feature but did not cause visual impairment in the affected child.

Implications:

• This study highlights the diverse ocular presentations of APECED in an Indian cohort.
• The findings underscore the importance of comprehensive ophthalmological evaluation in APECED patients.
• The identification of a novel AIRE gene mutation contributes to understanding the genetic basis of APECED and its phenotypic variability.