Ocular manifestations of congenital insensitivity to pain with anhidrosis.

PURPOSE: To describe ocular manifestations in Japanese patients with congenital insensitivity to pain with anhidrosis (CIPA), focusing particularly on the status of the ocular surface.

DESIGN

Observational case series.

METHODS

Eighteen patients with CIPA underwent applicable ophthalmologic examinations, including visual acuity, refraction, slit-lamp examination, fundus examination, tear breakup time, Schirmer 1 test, corneal sensitivity, and corneal topography.

RESULTS

Superficial punctate keratopathy (SPK) was observed at the interpalpebral area in 23 (64%) of 36 eyes. Corneal opacity was observed in three eyes (8.3%). Tear breakup time was below the lower limit of the normal range in all examined eyes, and the value of Schirmer 1 test was above the lower limit of the normal range in most of the examined eyes.

CONCLUSIONS

Superficial punctate keratopathy is observed in most cases of CIPA, which might predispose patients to corneal infection. Investigation of dry eye in patients with CIPA will provide unique opportunities to explore the critical roles of the autonomic sympathetic nervous system as well as the sensory nervous system in the physiology of tear production.