Audiological and Ophthalmological Manifestations in Patients with Mucopolysaccharidosis: A Retrospective Single-Center Study Mukopolisakkaridoz Olgularında İşitme ve Görme Bulguları: Tek Merkez Tecrübesi

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Sezen E. S., ERDÖL Ş.

Journal of Uludag University Medical Faculty, cilt.52, 2026 (Scopus)

Özet

Mucopolysaccharidoses (MPS) are rare inherited lysosomal storage disorders caused by deficiencies of enzymes responsible for the degradation of glycosaminoglycans. Progressive accumulation of glycosaminoglycans affects multiple organ systems, including the auditory and visual systems, and may significantly impair quality of life. This study aimed to retrospectively evaluate the auditory and ophthalmologic findings of patients diagnosed with MPS and to emphasize the importance of multidisciplinary follow-up. Medical records of 45 patients diagnosed with MPS and followed at the Division of Pediatric Metabolism, Uludağ University Faculty of Medicine, between January 2010 and December 2024, were retrospectively reviewed. Demographic characteristics, MPS subtypes, and audiological and ophthalmological findings were recorded. The mean age of the patients was 13.3±5.7 years, and the mean age at diagnosis was 4.39±3.5 years. Of the patients, 55.5% were male. The most common MPS subtypes were type IVa (28.8%) and type III (24.5%). Corneal opacity was detected in 46.6% of the patients, whereas hearing impairment was present in 15.9%. These findings demonstrate that auditory and visual systems are frequently affected in patients with MPS. Early diagnosis, regular sensory system screening, and multidisciplinary management are essential to improve clinical outcomes and quality of life in these patients.