Description of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia
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Published on: August 4, 2022
Maria Isabel Maya Naranjo1, Sara Mesa Mesa1, Valeria Torres Yepes2
1Ophthalmologist, Pontifical Bolivarian University, Medellín, Colombia.
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.
