Supero-nasal Subluxation of Lens in Homocystinuria – A Rare Case Report
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A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report
INTRODUCTION Homocystinuria is a hereditary disease caused by a defect in the enzymes involved in metabolizing methionine. Homocystinuria can influence many systems and may be mistaken for other diseases, including Moyamoya disease. Here, we report the case of a 10-year-old male patient with a diagnosis of Moyamoya disease who had been monitored for that for an extended period. The patient's di...
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PU R P O S E. Ectopia lentis remains a therapeutic challenge for ophthalmologists. It classically p resents with a preceding history of blunt or penetrating ocular trauma, or it may be associated with other ocular disorders such as congenital glaucoma and aniridia, or concomitant here d i t a ry systemic diseases such as Marfan syndrome and homocystinuria. ME T H O D S. Case re p o r t . RE S U...
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To cite: Walkden A, Morarji J, Smyth K. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014207445 DESCRIPTION A 25-year-old man with homocystinuria (HCU) presented with a 6-month history of blurred vision. His acuity measured 6/6 (20/20) bilaterally with spectacle correction. Examination found bilateral, inferior subluxation of the crystalline lens with zonular d...
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