Abstract
Apart from the classically described clinical manifestations, our case is distinguished by the presence of rapidly evolving glaucoma and an easily identifiable retinal surcharge in the fundus as a deposit of whitish chalky substances in the papillomacular bundles.
Highlights
Hurler-Scheie disease is an intermediate form of mucopolysaccharidosis type I
Our case is distinguished by the presence of rapidly evolving glaucoma and a deposit of whitish chalky substances within the papillomacular bundle of one eye while the papillomacular bundle of the other eye demonstrated striae
An 8-year-old girl from western Algeria, born in a family with a high rate of consanguinity over many generations presented to the clinic. She has Hurler-Scheie disease confirmed by enzymatic activity assay and gene testing that found an enzymatic deficiency of alpha L-iduronidase and IDUA gene mutation
Summary
Hurler-Scheie disease is an intermediate form of mucopolysaccharidosis type I. It is a rare metabolic disease that is transmitted in an autosomal recessive mode and causes overload of mucopolysaccharides in all organs [1] including the eye. Mucopolysaccharidosis I typically generate a significant hyperopia and astigmatism, corneal opacities, dry eyes, scleral thickening [2], pigmentary retinopathy, papilledema and optic atrophy. Glaucoma can be associated due to the accumulation of glycosaminoglycans within trabecular cells [3]. Our case is distinguished by the presence of rapidly evolving glaucoma and a deposit of whitish chalky substances within the papillomacular bundle of one eye while the papillomacular bundle of the other eye demonstrated striae
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