title: Hurler's disease.
abstract: Hurler's disease, also known as mucopolysaccharidoses 1H, an autosomal recessive disease due to enzyme alpha-iduronidase deficiency has generally a spectrum of findings involving the eye, skeletal abnormality, organomegaly, joint stiffness, hernia, mental retardation and cardiovascular abnormalities. The two cases presented here are related to each other as brother of 9 years age and sister of 7 years of age with their parents had consanguineous marriage. On ocular examination in both the cases there was dense bilateral corneal opacities. Glycosaminoglycan's level was found to be 4 mg/mmol cr in the first case and 5 mg/mmol cr in the second case. In the first case no ocular treatment was planned and in the second case penetrating keratoplasty was the choice of management.
authors.affiliation: Regional Institute of Ophthalmology, Kolkata.
authors.forename: Gautam
authors.initials: G
authors.lastname: Bhaduri
authors.forename: Soumya
authors.initials: S
authors.lastname: Chatterjee
authors.forename: Ajay De
authors.initials: AD
authors.lastname: Sarkar
authors.forename: Shyama Prosad
authors.initials: SP
authors.lastname: Mukherjee
authors.forename: Amit
authors.initials: A
authors.lastname: Todani
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D015948:Keratoplasty, Penetrating; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000601:surgery