Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis-ectodermal dystrophy (APECED). A long-term follow-up and visual prognosis

Abstract

Purpose: To report the outcome of chronic bilateral keratitis and other ocular manifestations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

Material and methods: The material consists of 69 patients with APECED, who were examined by the senior author as referrals from the pediatricians. The patients were seen at the Helsinki University Eye Hospital a total of 370 times and the follow-up periods range from 2 to 25 years.

Results: 25% of the patients had chronic bilateral keratitis with symptoms of intense photophobia, blepharospasm and lacrimation. On 13 patients the first symptoms appeared before the age of 4 years. Keratitis was the first presenting sign before any evidence of systemic disease in three patients, and in all patients keratitis was among the first three manifestations of the syndrome. The clinical picture from the acute to the chronic cicatricial stage is described. The best corrected visual acuity at the end of the follow-up was 0.6 or better in six patients only. Of the total material 12 patients had lenticular opacities as the manifestation of hypoparathyroidism.

Conclusions: Chronic bilateral keratitis is an ocular manifestation of APECED and in its etiology both hypoparathyroidism and candidiasis may be ruled out as single causes. When an ophthalmologist is confronted with a young child with bilateral chronic keratitis with symptoms of intense photophobia, blepharospasm, lacrimation and either with mucocutaneous candidiasis or hypoparathyroidism, the patient should be referred to a pediatric endocrinological consultation for the possibility of underlying APECED.