Multimodal ophthalmic findings in patients with mucopolysaccharidosis: A prospective observational study
European Journal of Ophthalmology, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2026
- Doi Numarası: 10.1177/11206721261496330
- Dergi Adı: European Journal of Ophthalmology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, Biomedical Reference Collection: Corporate Edition (EBSCO)
- Anahtar Kelimeler: Diseases of the ocular surface: nutritional disorders neuotrophickeratopathy < CORNEA / EXTERNAL DISEASE, electrophysiology < RETINA, examination techniques: confocal microscopy < CORNEA / EXTERNAL DISEASE, examination techniques: corneal topography/keratometry < CORNEA /EXTERNAL DISEASE, inborn errors of metabolism < PEDIATRIC OPHTHALMOLOGY
- Marmara Üniversitesi Adresli: Evet
Özet
Purpose: To characterize ocular involvement in pediatric patients with mucopolysaccharidosis (MPS) using multimodal assessment, with emphasis on corneal densitometry and visual electrophysiology. Methods: This prospective observational study included 22 patients with molecularly confirmed MPS. Ophthalmic assessment comprised best-corrected visual acuity, cycloplegic refraction, intraocular pressure, ultrasound pachymetry, slit-lamp grading of corneal opacity, Scheimpflug densitometry, in vivo corneal confocal microscopy, optical coherence tomography (OCT), and B-scan ultrasonography. Full-field electroretinography (FF-ERG) and flash visual evoked potentials (Flash VEP) were performed in cooperative patients. Results: Mean age was 9.05 ± 3.46 years, and 11 patients (50.0%) had MPS VI. Corneal opacity was present in 20 patients: mild in nine, moderate in eight, and severe in three. Mean corneal densitometry was 30.1 ± 10.9 grayscale units in the right eye and 28.5 ± 9.1 in the left eye. Densitometry values correlated strongly with corneal opacity grade (right: rs = 0.858, p < 0.001; left: rs = 0.696, p = 0.006). Corneal opacity precluded fundus examination in 11 patients; B-scan ultrasonography showed no posterior segment abnormality. OCT was evaluable in 15 patients and showed preserved macular morphology. Elevated intraocular pressure requiring treatment occurred in four patients with MPS VI; one also had bilateral optic atrophy. FF-ERG abnormalities were identified in nine of 14 tested patients, and bilateral flash VEP P2 latency prolongation was reported in four. Conclusion: Corneal opacity was the predominant ocular manifestation and frequently limited posterior segment assessment. Multimodal structural and functional testing provided complementary information on corneal, glaucoma-related, optic nerve, and retinal involvement in MPS.