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Case report on evaluation of ophthalmological finding in hurler disease

Author: 
Rahul Mistry and Kabita Bora Baishya

Aims: The mucopolysaccharidosis (MPS) are a heterogeneous group of rare disorders characterised by accumulation of glycosaminoglycans within multiple organ systems. This case reports evaluates occular findings and manifestations in a hurler disease patient.
Methods and materials: A 8yr old girld diagnosed as a type1 muccopolysaccharidosis presented with systemic manifestations include coarse facies, dysostosis multiplex, hepatosplenomegaly, and intellectual impairment. Ophthalmic findings with visual acuity of 6/12 and 6/9 was having corneal clouding and showing fundus picture of tourtious vessels , optic nerve head swelling. Initial intra ocular pressure was 18mmHg and 20mmHg for right and left eye respectivel and corneal clouding. She also had left eye latent squint of 15degree essotropia and hypertropia. Electroretinogram was done including karyotyping for further evaluation. And case was reviewed.
Results: The patients visual aquity was treated with glasses and regular follow-up of intra-occular pressure and status of cornea and retina was observed.
Conclusion: Ocular complications causing significant reduction in vision are common in MPS. The majority of MPS I and MPS VI patients have corneal opacification, which can lead to difficulties in diagnosis and monitoring of glaucoma, optic disc changes, and retinopathy.

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