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  3. Pediatric Ophthalmology - I, Free Paper
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  5. FP0152 : Gaucher's Disease presenting with Microspherophakia – A Rare Clinical Entity

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Chief & Presenting Author: Dr.Afeefa Akhter

Co Author(s): Dr.Wajahat Rizvi

Abstract

A pale-looking 6-year-old boy with abdominal distension presented 2 years back with complaints of 2 episodes of severe pain in BE in 15 days. BCVA in BE was 6/12p with -8 DS & -4.50 DC at 900, IOP was 26mm Hg in RE & 28mm Hg in LE. Examination revealed shallow AC with iridodonesis and phacodonesis in BE with clear cornea and NSNR pupils. Fundus revealed normal disc & normal macula. Patient was prescribed glasses with topical anti glaucoma drugs & referred to Paediatrics.
Patient presented 2 years later with IOP of 45 & 36mm Hg in RE and LE respectively. Patient had severe abdominal distension, pallor and failure to thrive. BCVA had reduced to 6/18 in BE with -14 DS & -2.50 DC at 900. AC was shallow & entire lenticular equator was visible in BE with dilated pupil, leading to diagnosis of lenticular myopia with secondary glaucoma d/t microspherophakia. Patient was put on topical anti-glaucoma drugs & referred to Paediatrics where he was diagnosed with Gaucher’s disease.