Ocular Surface Disease in a Young Boy with Laryngo-Onycho-Cutaneous Syndrome: A Case Report

Doi: 10.36351/pjo.v41i3.2007

Authors

  • Saman Gulzar
  • Shehr Bano Abbas
  • Hajra Arshad Malik Al-Shifa Trust Eye Hospital
  • Najia Uzair Al-Shifa Trust Eye Hospital

DOI:

https://doi.org/10.36351/pjo.v41i3.2007

Abstract

Laryngo-Onycho-Cutaneous (LOC) syndrome is a rare variant of autosomal recessive junctional epidermolysis bullosa (JEB), predominantly affecting individuals from consanguineous families within the Muslim Punjabi community. A 12-year-old boy presented with a progressive decline in visual acuity over four years, accompanied by photophobia and excessive tearing. His visual acuity was severely impaired, with light perception in the right eye and 6/60 vision in the left eye. Slit-lamp biomicroscopy revealed symblepharon in both eyes, corneal conjunctivalization, and restricted ocular motility in all directions. Systemic examination identified additional features, including nail clubbing, cheek ulcerations, stridor, hoarseness, vitiligo, and dental anomalies. The patient underwent symblepharectomy with an amniotic membrane graft. Cycloplegic refraction was performed 1 month postoperatively which resulted in considerable improvement in visual acuity and symptomatic relief

Keywords:  Symblepharon;Amniotic membrane, Graft, Laryngo-Onycho-Cutaneous syndrome.

Author Biography

Saman Gulzar

Post Graduate Trainee

General Ophthalmology

Downloads

Published

01-07-2025

How to Cite

1.
Gulzar S, Abbas SB, Malik HA, Uzair N. Ocular Surface Disease in a Young Boy with Laryngo-Onycho-Cutaneous Syndrome: A Case Report: Doi: 10.36351/pjo.v41i3.2007. pak J Ophthalmol [Internet]. 2025 Jul. 1 [cited 2025 Jul. 2];41(3). Available from: https://pjo.org.pk/index.php/pjo/article/view/2007

Issue

Section

Case Report