FP1373 : An Unique Case of Morquio Syndrome (Mucopolysaccharidosis

Dr. Aarti Jain, Dr. S Bala Murugan, Dr. Annamalai O

Purpose : To report a rare case of Morquio which first presented to an Ophthalmologist
A 6 year old boy of short stature presented with defective vision in both eyes since 3 months. Vision was hand movements in both eyes. Anterior segment showed corneal opacities, festooned pupil with cataract and no view of fundus.B scan was normal. Diagnosed as chronic, non-granulomatous anterior uveitis with complicated cataract. Investigations for specific etiology of uveitis were negative. Internist confirmed pectus carinatum and flattened bones of the spine with cranio-vertebral junction anomaly and dilated pulmonary artery. He underwent phacoemulsification with intraocular lens implantation in both eyes with oral steroids cover. Post-operatively, fundus was normal in both eyes. Vision was 6/7.5 in right and 6/24 in left eye.

Conclusion : Thorough systemic evaluation and a vigilant diagnosis helps in timely intervention and proper referral to the specialists thereby improving the quality of life.

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