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RESEARCH PRODUCT

Ophthalmological Findings in Mucopolysaccharidoses

Ulrike HampelSusanne PitzShizuka Tomatsu

subject

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtygenetic structuresmedicine.medical_treatmentMucopolysaccharidosislcsh:MedicineGlaucomaReviewHematopoietic stem cell transplantation03 medical and health sciences0302 clinical medicineQuality of lifeCorneal cloudingmedicinebusiness.industryMortality rateIncidence (epidemiology)lcsh:Rnutritional and metabolic diseasesmucopolysaccharidosisGeneral MedicineEnzyme replacement therapymedicine.diseaseocular manifestationseye diseasesophthalmology030104 developmental biologycorneal clouding030221 ophthalmology & optometrylysosomal storage disordersense organsbusiness

description

The mucopolysaccharidoses (MPS) are a heterogenous group of lysosomal storage disorders caused by the accumulation of glycosaminoglycans (GAGs). The accrual of these compounds results in phenotypically varied syndromes that produce multi-organ impairment with widespread systemic effects. The low incidence of MPS (approximately 1/25,000 live births) in conjunction with the high childhood mortality rate had limited the availability of research into certain clinical features, especially ocular manifestations. As the recent successes of hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) have greatly increased life expectancy in these patients, they have served as a focal point for the transition of research towards improvement of quality of life. Ophthalmological findings in MPS include corneal clouding, glaucoma, optic neuropathies, and retinopathies. While corneal clouding is the most common ocular feature of MPS (especially type I, IVA, and VI), its response to HSCT and ERT is minimal. This review discusses known eye issues in the MPS subtypes, diagnosis of these ocular diseases, current clinical and surgical management, noteworthy research progress, and ultimately presents a direction for future studies.

https://doi.org/10.3390/jcm8091467