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Ocular manifestations of congenital insensitivity to pain: a long-term follow-up
  1. Baker Elsana1,2,
  2. Libe Gradstein1,2,
  3. Ahed Imtirat1,2,
  4. Ronit Yagev1,2,
  5. Chiya Barrett1,2,
  6. Galina Ling2,3,
  7. Muhammad Abu Tailakh4,
  8. Amjad Baidousi1,2,
  9. Erez Tsumi1,2
  1. 1Ophthalmology Department, Soroka University Medical Center, Clalit Health Services, Beer Sheva, Israel
  2. 2Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel
  3. 3Pediatric Ambulatory Services, Saban Pediatric Medical Center for Israel, Soroka University Medical Center, Beer Sheva, Israel
  4. 4Recanati School for Community Health Professions, Department of Nursing, Ben-Gurion University of the Negev Faculty of Health Sciences and Soroka University Medical Center, Beer Sheva, Israel
  1. Correspondence to Dr. Baker Elsana, Ophthalmology Department, Soroka University Medical Center, Beer Sheva 84101, Israel; bakerelsana1{at}gmail.com

Abstract

Aim To describe ocular manifestations in children with congenital insensitivity to pain with and without anhidrosis (CIPA and CIP).

Methods We reviewed records of eye examinations of 39 children diagnosed with CIPA or CIP. We collected clinical data, with particular attention to ocular surface findings. Corneal sensitivity was tested by presence of a blink reflex upon touching the cornea. Statistical analysis assessed differences in manifestations between the two conditions, and relationships among corneal sensitivity, presence of corneal opacities and visual acuity (VA).

Results CIPA was diagnosed in 32 children and CIP in 7. The median follow-up periods were 50 months (CIPA group) and 94 months (CIP group). Corneal opacities were present in 23% of CIPA eyes and in 57% of CIP eyes. A blink reflex was positive in 52% of CIPA eyes and in 33% of CIP eyes. We recorded VA ≥20/25 in 36% of CIPA eyes, whereas all patients with CIP had VA ≤20/30. For the whole cohort, we found a negative correlation between a preserved blink reflex and the presence of corneal opacities, and a positive correlation between a preserved blink reflex and VA ≥20/25.

Conclusion Children with congenital insensitivity to pain are prone to develop corneal scarring. Patients with CIP tend to have more severe ocular surface disease than those with CIPA, probably due to more prevalent loss of corneal sensation. In both groups, a preserved blink reflex correlated with good vision. Affected children should have close follow-up to promptly treat ocular surface disease and prevent vision loss.

  • cornea
  • wound healing
  • ocular surface
  • genetics

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Footnotes

  • BE and LG are joint first authors.

  • BE and LG contributed equally.

  • Contributors BE, RY and ET designed the study and initiated the project. BE, AI, RY, AB, GL and ET examined the patients and collected the data. LG monitored data acquisition, critically analysed the data and interpreted the results. BE and LG wrote the manuscript and revised it. CB contributed to data acquisition and writing. MAT performed statistical analysis and participated in revising the paper.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Ethics approval The research was approved by the SUMC Institutional Review Board and Ethics Committee and adhered to the tenets of the Declaration of Helsinki.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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