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Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis.

2011

The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in several tissues and organs. This accumulation results in an array of clinical manifestations and premature death in severe cases. Ocular problems are very common in children with MPS and may involve the cornea, sclera, trabecular meshwork, retina, optic nerve and also the posterior visual pathways. The aims of this study are to give an overview of ocular problems in MPS and to provide clinical guidelines for paediatric ophthalmologists for early diagnosis and management of ocular manifestations in children with MPS. Diagnostic problems may arise in child…

Pediatricsmedicine.medical_specialtygenetic structuresEye DiseasesMucopolysaccharidosisLysosomal storage disordersDiagnostic Techniques Ophthalmological03 medical and health sciences0302 clinical medicineOphthalmologyCorneaPrescription glassesMedicineHumansChildbusiness.industryInfant Newbornnutritional and metabolic diseasesInfantGeneral MedicineMucopolysaccharidosesmedicine.diseaseeye diseases3. Good healthScleraOphthalmologyPremature deathmedicine.anatomical_structureEyeglassesChild PreschoolPractice Guidelines as Topic030221 ophthalmology & optometryOptic nerveQuality of Lifesense organsTrabecular meshworkbusiness030217 neurology & neurosurgeryActa ophthalmologica
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