| Título : |
Description of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia |
| Tipo de documento : |
documento electrónico |
| Autores : |
Torres Yepes, Valeria, Autor ; Giraldo Ospina, Gustavo Adolfo, Autor ; Carolina Baquero Montoya, Autor ; Maya Naranjo, María Isabel, Autor ; Mesa Mesa, Sara, Autor ; Piedrahita Botero, Maria Adelaida, Autor ; Castaño Álzate, Carlos Felipe, Autor ; López López, Lucelly, Autor |
| Fecha de publicación : |
2025 |
| Títulos uniformes : |
Ophthalmic Genetics
|
| Idioma : |
Inglés (eng) |
| Palabras clave : |
Mucopolysaccharidosis IV; cataract; opacity of the cornea; refractive errors. |
| Resumen : |
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. |
| Mención de responsabilidad : |
Maria Isabel Maya Naranjo, Sara Mesa Mesa, Valeria Torres Yepes, Gustavo Adolfo Giraldo Ospina, Maria Adelaida Piedrahita Botero, Carolina Baquero-Montoya, Carlos Felipe Castaño Alzate, Lucelly López López |
| Referencia : |
Ophthalmic Genet. 2025 May 14:1-5. doi: 10.1080/13816810.2025.2503394. Online ahead of print. |
| DOI (Digital Object Identifier) : |
10.1080/13816810.2025.2503394 |
| PMID : |
40366728 |
| Derechos de uso : |
CC BY-NC-ND |
| En línea : |
https://www.tandfonline.com/doi/abs/10.1080/13816810.2025.2503394 |
| Enlace permanente : |
https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis |
Description of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia [documento electrónico] / Torres Yepes, Valeria, Autor ; Giraldo Ospina, Gustavo Adolfo, Autor ; Carolina Baquero Montoya, Autor ; Maya Naranjo, María Isabel, Autor ; Mesa Mesa, Sara, Autor ; Piedrahita Botero, Maria Adelaida, Autor ; Castaño Álzate, Carlos Felipe, Autor ; López López, Lucelly, Autor . - 2025. Obra : Ophthalmic GeneticsIdioma : Inglés ( eng)
| Palabras clave : |
Mucopolysaccharidosis IV; cataract; opacity of the cornea; refractive errors. |
| Resumen : |
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. |
| Mención de responsabilidad : |
Maria Isabel Maya Naranjo, Sara Mesa Mesa, Valeria Torres Yepes, Gustavo Adolfo Giraldo Ospina, Maria Adelaida Piedrahita Botero, Carolina Baquero-Montoya, Carlos Felipe Castaño Alzate, Lucelly López López |
| Referencia : |
Ophthalmic Genet. 2025 May 14:1-5. doi: 10.1080/13816810.2025.2503394. Online ahead of print. |
| DOI (Digital Object Identifier) : |
10.1080/13816810.2025.2503394 |
| PMID : |
40366728 |
| Derechos de uso : |
CC BY-NC-ND |
| En línea : |
https://www.tandfonline.com/doi/abs/10.1080/13816810.2025.2503394 |
| Enlace permanente : |
https://hospitalpablotobon.cloudbiteca.com/pmb/opac_css/index.php?lvl=notice_dis |
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Description of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia
