Dr.RAHUL MISTRY
Aim : Mucopolysaccharidoses (MPS) are heterogeneous group of rare disorders characterized by accumulation of glycosaminoglycans within multiple organ systems. This case report evaluates ocular findings and manifestations in a hurler disease patient.
Objective : 8yr girl diagnosed as type1 MPS having coarse facies, bony deformity, and hepatosplenomegaly. Ocular finding of visual acuity 6/12 and 6/9 with corneal clouding and fundus picture of tortuous vessels and optic nerve head swelling. Initial I.O.P for right and left eye were 18 and 20 mmHg with left eye latent squint. ERG and karyotyping done for further evaluation. Case was reviewed.
Results: Visual acuity was corrected and regular follow-up of I.O.P with cornea and retinal status observed.
Conclusion: Ocular complications causing significant reduction in vision are common in MPS. Majority have corneal opacification, which can lead to difficulties in diagnosis and monitoring of glaucoma, optic disc changes, and retinopathy.
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