Ophthalmic Genet. 2025 May 14:1-5. doi: 10.1080/13816810.2025.2503394. Online ahead of print.
ABSTRACT
INTRODUCTION: This original study presents an investigation of ophthalmological manifestations in Mucopolysaccharidosis IVA, a rare genetic disorder with limited characterization, particularly of ocular findings.
PURPOSE: To describe the ophthalmological manifestations in patients with Morquio disease in Medellín, Colombia.
STUDY DESIGN AND METHODOLOGY: A cross-sectional study was conducted with 23 patients diagnosed with Morquio syndrome. They underwent a comprehensive ophthalmological evaluation, and clinical findings were recorded in an online Excel sheet. Descriptive statistical methods were then applied, with data reported as absolute frequencies and percentages.
RESULTS: Refractive defects were found in 100% of patients, primarily hyperopia. Cataracts were the next most common finding (71%), particularly of the starry nuclear type. Corneal stromal opacity was observed in 60%, with 55% in children. In this group, 40% had moderate severity and 20% had total opacity. In adults, stromal opacity was present in 60%, with 66% showing moderate severity.
CONCLUSION: Most Morquio disease patients in Antioquia exhibit refractive defects, with hyperopia being the most common. Among physical examination findings, stromal corneal opacity and starry nuclear cataracts were the most prevalent.
PMID:40366728 | DOI:10.1080/13816810.2025.2503394
