Corneal hysteresis in mucopolysaccharidosis I and VI - authors reponse
نویسندگان
چکیده
منابع مشابه
Mucopolysaccharidosis VI
Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysp...
متن کاملDiagnostic and treatment strategies in mucopolysaccharidosis VI
Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin sulfate, which accumulate in body tissues and organs of MPS VI patients. The storage of GAGs (especially derma...
متن کاملManagement guidelines for mucopolysaccharidosis VI.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment. Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression. The optimal standard of care should be based on evidence from randomized, controll...
متن کاملMucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, wi...
متن کاملCorneal hysteresis and corneal resistance factor in pellucid marginal degeneration
Purpose To evaluate and compare corneal hysteresis (CH) and corneal resistance factor (CRF) in pellucid marginal degeneration (PMD), keratoconus (KCN), and normal eyes using the Ocular Response Analyzer (ORA). Methods In this retrospective study, corneal biomechanical parameters were measured in patients with PMD (n = 102) and KCN (n = 202) and normal subjects (n = 208) using the ORA. Data, i...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2011
ISSN: 1755-375X
DOI: 10.1111/j.1755-3768.2011.02249.x