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


METHODS
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.
Amano
Shiro
S
Department of Ophthalmology, Tokyo University Graduate School of Medicine, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. amanos-tky@umin.ac.jp
Fukuoka
Shima
S
Usui
Tomohiko
T
Honda
Norihiko
N
Ideta
Ryuichi
R
Ochiai
Makiko
M
Yamagami
Satoru
S
Araie
Makoto
M
Awaya
Yutaka
Y
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003316:Corneal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D003318:Corneal Opacity / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism; D005260:Female; D015590:Fluorophotometry; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications*; D006801:Humans; D007007:Hypohidrosis / Q000150:complications*; D007223:Infant; D008297:Male; D000699:Pain Insensitivity, Congenital / Q000150:complications*; D012678:Sensation Disorders / Q000175:diagnosis / Q000209:etiology / Q000378:metabolism; D013666:Tears / Q000378:metabolism