Hurler's disease.
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.
Bhaduri
Gautam
G
Regional Institute of Ophthalmology, Kolkata.
Chatterjee
Soumya
S
Sarkar
Ajay De
AD
Mukherjee
Shyama Prosad
SP
Todani
Amit
A
D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D015948:Keratoplasty, Penetrating; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000601:surgery