Congenital insensitivity to pain with anhidrosis: ocular and systemic manifestations

R Yagev1, J Levy, Z Shorer

  • 1Department of Ophthalmology, Soroka Medical Center and Ben-Gurion University, Beer-Sheva, Israel. yagevy@netvision.net.il

Insights

Congenital insensitivity to pain with anhidrosis (CIPA) causes absent corneal sensation, leading to frequent, poorly healing corneal ulcers. CIPA should be considered in neurotrophic keratitis diagnosis.

Area of Science:

  • Ophthalmology
  • Neurology
  • Genetics

Background:

  • Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disorder.
  • Patients with CIPA lack pain sensation and the ability to sweat.
  • Ophthalmologic manifestations in CIPA are not well-documented.

Purpose of the Study:

  • To determine the incidence and severity of eye problems in children with CIPA.
  • To investigate the link between CIPA and corneal complications.

Main Methods:

  • Ocular and neurological examinations were performed on 15 children with CIPA.
  • Corneal sensation, refraction, and nerve conduction were assessed.
  • Corneal ulcers were treated, and surgical interventions were documented.

Main Results:

  • All 15 children had absent corneal sensation.
  • 10 children had corneal opacities, and 7 developed corneal ulcers, with recurrences in 3.
  • Patients experienced delayed healing of corneal and other injuries, hyperpyrexia, and mental retardation.

Conclusions:

  • Absent corneal sensation in CIPA patients leads to a high risk of severe corneal ulcers with poor healing.
  • CIPA is a crucial consideration in the differential diagnosis of neurotrophic keratitis.
  • Early recognition and management of ocular manifestations in CIPA are vital.
Abstract

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