DOI: 10.36347/sjmcr.2020.v08i04.013

Pages: 468-470

Mucopolysaccharidosis are a group of rare inherited lysosomal storage disorder. The incidence of MPS type VI (Maroteaux- Lamy syndrome) is 0.36 to 1.30 per 100,000. It has autosomal recessive inheritance and is caused due to mutation in ARSB gene located on chromosome 5. This mutation causes absent or reduced production of N- acety-l galactosamine 6 sulfatase enzyme (Arylsulfatase B). There is a progressive multisystem involvement with ocular involvement in the form of cloudy cornea, thickened sclera, glaucoma, optic atrophy and retinopathy. However, cloudy cornea remains the main culprit for reduced vision which is managed by corneal transplantation. Here we report a case of maroteaux- Lamy syndrome in which penetrating keratoplasty of one eye was done but was deferred in the other eye due to poor outcome in the operated eye in the presence of optic atrophy.