Bilateral epiretinal membranes: a new finding in Hunter syndrome
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Updated: Nov 3, 2026
Enrichment of Bruch's Membrane from Human Donor Eyes
Published on: November 15, 2015
1Great Ormond Street Hospital for Children NHS Trust, London, UK.
Abstract:
Hunter syndrome or Type II mucopolysaccharidosis is a rare disorder of mucopolysaccharide metabolism. We report the cases of two brothers with Hunter syndrome with the previously undocumented ocular finding of bilateral epiretinal membranes. Epiretinal membranes are an uncommon finding in the paediatric age group.
Insights
Hunter syndrome, a rare metabolic disorder, can present with previously undocumented ocular complications. This study details bilateral epiretinal membranes in two brothers diagnosed with Hunter syndrome, highlighting an uncommon pediatric finding.
Area of Science:
- Ophthalmology
- Genetics
- Metabolic Disorders
Background:
- Hunter syndrome (Mucopolysaccharidosis type II) is a rare X-linked genetic disorder.
- It results from deficient iduronate-2-sulfatase enzyme activity, leading to glycosaminoglycan accumulation.
- Ocular manifestations are known but typically involve corneal clouding or optic nerve abnormalities.
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