Severe congenital bilateral corneal ulceration due to Wolf-Hirschhorn syndrome: a case-report and review of the ophthalmic literature

Christopher King; Peter Michael Mota; Göran Darius Hildebrand

doi:10.1016/j.jaapos.2019.06.004

Severe congenital bilateral corneal ulceration due to Wolf-Hirschhorn syndrome: a case-report and review of the ophthalmic literature

J AAPOS. 2019 Oct;23(5):303-305. doi: 10.1016/j.jaapos.2019.06.004. Epub 2019 Sep 9.

Authors

Christopher King¹, Peter Michael Mota², Göran Darius Hildebrand³

Affiliations

¹ Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Headington, United Kingdom.
² East Kent Hospital University NHS Foundation Trust, Kent and Canterbury Hospital, Canterbury, United Kingdom.
³ Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Headington, United Kingdom. Electronic address: dariushildebrand@yahoo.co.uk.

PMID: 31513906
DOI: 10.1016/j.jaapos.2019.06.004

Abstract

A newborn boy with genetically confirmed Wolf-Hirschhorn syndrome presented with severe bilateral corneal ulceration that required emergency surgical tarsorrhaphies and permanent lower punctal occlusion. The patient healed completely, with no recurrence over 18 months of follow-up.

Publication types

Case Reports
Review

MeSH terms

Chromosome Deletion
Chromosomes, Human, Pair 4
Corneal Ulcer / congenital
Corneal Ulcer / etiology*
Corneal Ulcer / surgery
Eyelids / surgery
Fetal Growth Retardation / diagnosis
Gestational Age
Humans
Infant, Newborn
Male
Wolf-Hirschhorn Syndrome / complications*
Wolf-Hirschhorn Syndrome / genetics
Wound Healing / physiology

Supplementary concepts

Chromosome 4 short arm deletion