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

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.

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Journal
Pakistan Journal of Ophthalmology
Published
2025-07-01
DOI
https://doi.org/10.36351/pjo.v41i3.2007
Primary Topic
Skin Diseases and Diabetes
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article
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article

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

Hasmat Malik, Sohail Abbas, Saman Gulzar, Najia Uzair
Pakistan Journal of Ophthalmology
Skin Diseases and Diabetes
article

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

Hasmat Malik, Sohail Abbas, Saman Gulzar, Najia Uzair
article en

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.

Pakistan Journal of OphthalmologyVol. 41(3)
Dar Al-Shifa Hospital (PS)
Openalex Percentile: Top 71%
Skin Diseases and Diabetes
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