Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS I-Hurler)
نویسندگان
چکیده
منابع مشابه
Hurler syndrome (Mucopolysaccharidosis type I).
To cite: Grech R, Galvin L, O’Hare A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2012008148 DESCRIPTION Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of der...
متن کاملIntraocular lenses in children: changes in axial length, corneal curvature, and refraction.
AIM To assess changes in axial length, corneal curvature, and refraction in paediatric pseudophakia. METHODS 35 eyes of 24 patients with congenital or developmental lens opacities underwent extracapsular cataract extraction and posterior chamber intraocular lens implantation. Serial measurements were made of axial length, corneal curvature, objective refraction, and visual acuity. RESULTS F...
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Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cel...
متن کاملMucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters
Mucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical deformities and developmental anomalies. Part of a group of clinically progressive disorders, it is caused by the deficiency of the lysosomal enzyme, α-L -iduronidase, which results in intralysosomal accumulation of dermatan sulfate and heparan sulfate and in turn causes cell dysfunction. Two sisters, one 11 ...
متن کاملImmunological evaluation of patients with mucopolysaccharidosis (MPS)
Background MPS is a group of metabolic diseases caused by deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAG). Recurrent respiratory infections, sleep disturbances, upper and lower airway obstruction are frequently reported in MPS’ patients. However, cellular accumulation of GAG fragments leading to progressive multi-system manifestations can clutter homeostasis also modify th...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2010
ISSN: 1755-375X
DOI: 10.1111/j.1755-3768.2010.01934.x