Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report.

Our case represents the importance of multidisciplinary services and highlights the role of genetic testing in diagnosing such syndromic cases. We reviewed previous reports and found that available treatment for ocular involvement is usually nonsatisfactory; however, early detection and referral by ophthalmologists could result in treating previously undetected endocrine disorders that can be life threatening if left untreated.