Audiological and Ophthalmological Manifestations in Patients with Mucopolysaccharidosis: A Retrospective Single-Center Study

Öz

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.

Anahtar Kelimeler

• Mucopolysaccharidosis
• hearing loss
• corneal opacity
• multidisciplinary approach.

Destekleyen Kurum

No financial support was received for this study.

Etik Beyan

Ethical approval for this study was obtained from the Bursa Uludağ University Faculty of Medicine Health Research Ethics Committee (Decision No: 2025/616-8/12, Date: 30 April 2025). The study was conducted in accordance with the principles of the Declaration of Helsinki.

Teşekkür

The authors thank the staff of the Department of Pediatric Metabolism, Uludağ University Faculty of Medicine, for their support.

Mukopolisakkaridoz Olgularında İşitme ve Görme Bulguları: Tek Merkez Tecrübesi

Öz

Mukopolisakkaridozlar (MPS), glikozaminoglikanların lizozomal yıkımından sorumlu enzimlerin eksikliği sonucu ortaya çıkan nadir kalıtsal lizozomal depo hastalıklarıdır. Glikozaminoglikanların ilerleyici birikimi birçok organ sistemini etkileyebilir ve özellikle işitme ve görme sistemlerinin tutulumu hastaların yaşam kalitesini önemli ölçüde azaltabilir. Bu çalışmada, mukopolisakkaridoz tanısı ile izlenen hastaların işitsel ve oftalmolojik bulgularının retrospektif olarak değerlendirilmesi ve multidisipliner izlemin öneminin ortaya konması amaçlanmıştır. Uludağ Üniversitesi Tıp Fakültesi Çocuk Metabolizma Bilim Dalı’nda Ocak 2010–Aralık 2024 tarihleri arasında izlenen 45 MPS hastasının tıbbi kayıtları geriye dönük olarak incelenmiştir. Hastaların demografik özellikleri, MPS alt tipleri ile işitme ve göz muayene bulguları değerlendirilmiştir. Hastaların ortalama yaşı 13,3±5,7 yıl, ortalama tanı yaşı 4,39±3,5 yıl olup olguların %55,5’i erkekti. En sık görülen MPS alt tipleri Tip IVa (%28,8) ve Tip III (%24,5) idi. Hastaların %46,6’sında kornea opasitesi, %15,9’unda ise işitme kaybı saptandı. Bulgularımız MPS hastalarında işitme ve görme sisteminin sıklıkla etkilendiğini göstermektedir. Bu nedenle erken tanı, düzenli duyusal sistem taramaları ve multidisipliner izlem hastaların klinik sonuçlarını ve yaşam kalitesini iyileştirmek açısından önemlidir.

Anahtar Kelimeler

• Mukopolisakkaridoz
• işitme kaybı
• korneal opasite
• multidisipliner yaklaşım

Destekleyen Kurum

Bu çalışma için herhangi bir kurum veya kuruluştan finansal destek alınmamıştır.

Etik Beyan

Bu çalışma için Bursa Uludağ Üniversitesi Tıp Fakültesi Sağlık Araştırmaları Etik Kurulu’ndan etik onay alınmıştır (Karar No: 2025/616-8/12, Tarih: 30.04.2025). Çalışma Helsinki Bildirgesi ilkelerine uygun olarak yürütülmüştür.

Teşekkür

Bu çalışmanın yürütülmesi sürecinde katkı sağlayan Uludağ Üniversitesi Tıp Fakültesi Çocuk Metabolizma Bilim Dalı çalışanlarına teşekkür ederiz.

Kaynakça

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