Objective:

To determine ocular manifestations of Congenital Insensitivity to Pain with Anhidrosis (CIPA), in order to aid the clinical detection of these lesions and thus promote early management.

Background:

CIPA is a rare autosomal recessive syndrome caused by a mutation in the Neurotrophic Tyrosine Receptor Kinase (NTRK1) leading to abnormal growth of nerve cells. CIPA is characterized by recurrent episodes of infections and unexplained fever, anhidrosis ,absence of reaction to noxious stimuli,  mental retardation, self-mutilating behaviors and damage to many body organs, including the eyes. 

Design/Methods:

We systematically searched Medline/PubMed, Scopus, and Web of Science databases from their inception until April 2023 for papers describing the clinical manifestations of CIPA patients. Inclusion criteria were papers reporting ocular manifestations of patients diagnosed with CIPA. We excluded any paper written in a language other than English, reporting ocular manifestations of patients diagnosed with syndromes other than CIPA, review articles,RCTs, grey literature, and any paper that doesn’t report ocular manifestations of CIPA patients

Results:

Out of 6243 studies, 28 studies were included for final analysis, comprising 118 patients. Mean age was 8.01 years, and males represented 63.5% (n=75). 43 patients have bilateral ocular manifestations. The commonest ocular manifestations were corneal ulcerations which were reported in 46 patients (40%), followed by corneal opacity in 33 patients (27.96%), followed by superficial punctate keratopathy reported in 19 patients (16.1%). Topical lubricants, topical antibiotics, and lateral tarsorrhaphy were common management modalities for those patients. Absent corneal sensitivity was reported in 47 patients (39.8%.),while decreased lacrimation was reported in 33 patients (27.9%). On the other hand,self-mutilation was reported in 83 patients (70.3%),while mental retardation was reported in 71 patients (60.1%).

Conclusions:

Corneal ulcers,corneal opacities,and superficial punctate keratopathy among other manifestations are common ocular presentations in patients with CIPA.Self-mutilation,mental retardation,and absence of corneal reflex are factors that may explain the development of these manifestations