Ocular complications of autoimmune polyendocrinopathy syndrome type 1

PURPOSE To report the ocular complications in a series of patients with autoimmuno polyendocrinopathy syndrome, type I (APS1). METHODS A retrospective study of 17 patients with APS1 svndrome treated at the department of ophthalmology, Our Lady's Hospital for Sick Children in Crumlin, Dublin, Ireland. All patients had clinical manifestations of the disease in keeping with the diagnostic criteria of APS1. Each patient had a comprehensive ophthalmic history taken and examination, including ocular symptoms, best-corrected visual acuity, slit-lamp biomicroscopy, tear film evaluation, and dilated ophthalmoscopic examination. RESULTS Six of 17 patients (35%) had corneal changes. Two patients (12%) had severe keratoconjunctivitis requiring hospitalization and intensive topical steroids and lubricants. The inflammation resulted in visual acuity reduction in one patient secondary to central corneal scarring. Other ocular findings included reduced tear production, as tested with Schirmers tear strips (63%), lens opacities (18%), hypotrichosis (12%), hypertrichosis (5.9%), anisometropic amblyopia (5.9%), and myopia (5.9%). CONCLUSIONS The most common and clinically important ocular manifestation of APS1 was keratoconjunctivitis associated with dry eye. This con result in progressive corneal scarring and vision loss.