Ocular Surface Disease in a Young Boy with Laryngo-Onycho-Cutaneous Syndrome: A Case Report
Year: 2025
Type: article
Study design: Case Report
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.
Authors: Saman Gulzar, Shehr Bano Abbas, Hajra Arshad Malik, Najia Uzair
Institution: Al-Shifa Trust Eye Hospital
Language: English
Subfield: Radiology, Nuclear Medicine and Imaging
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4411974160