Severe photophobia in a teenager with APECED syndrome

ABSTRACT

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy [APECED] syndrome is a rare, but well-known cause of chronic keratoconjunctivitis with early onset. Patient A 15 year-old boy with APECED syndrome, who was referred to our hospital because of intense photophobia and blepharospasm. On clinical examination the patient had severe keratitis accompanied by iridocyclitis. The patient showed dramatic response to topical corticosteroids and cycloplegics. Chronic bilateral keratitis is an ocular manifestation of APECED. When an ophthalmologist is confronted with a young child or adolescent and bilateral chronic keratitis with symptoms of intense photophobia, blepharospasm, lacrimation and either with mucocutaneous candidiasis or hypoparathyroidism, APECED is a disease of consideration and appropriate investigation should be done