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An update on ocular involvement in mucopolysaccharidoses
Anuradha Ganesh1, Zandre Bruwer, Khalid Al-Thihli
1Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman. aganesh@squ.edu.om
Current Opinion in Ophthalmology
|July 23, 2013
Summary
Early ocular manifestations in mucopolysaccharidoses (MPS) are key for diagnosis. Ophthalmologists are vital for early detection and monitoring, improving patient prognosis with new therapies.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
- Ocular manifestations are common and can lead to significant visual impairment.
Purpose of the Study:
- To update knowledge on ocular manifestations of MPS.
- To highlight diagnostic challenges and review etiopathogenesis, systemic effects, and treatments.
Main Methods:
- Review of current literature on MPS ocular findings.
- Emphasis on diagnostic protocols and monitoring tools.
Main Results:
- Advances in therapies (HSCT, ERT) improve lifespan and reduce morbidity.
- Corneal opacification, retinal degeneration, and optic atrophy cause visual impairment.
- Standard ophthalmic evaluation is crucial for diagnosis and monitoring.
Conclusions:
- Diagnostic delays in MPS are frequent; early ocular signs are critical.
- Ophthalmologists play a key role in early detection and management.
- Improved therapies and supportive care enhance patient prognosis significantly.
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