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Nepal J Ophthalmol. 2012 Jul-Dec;4(2):326-8. doi:

Homocystinuria masquerading as vitamin B12 deficiency.

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Dr RP Center for Ophthalmic Science, AIIMS, New Delhi, India.



Homocystinuria is a rare metabolic disorder characterized by excess homocysteine in the urine. Vitamin B12 deficiency has diverse cutaneous, nervous and ophthalmic manifestations.


To report a case of homocystinuria masquerading as vitamin B 12 deficiency.


We hereby are presenting an interesting case of a 4 year old boy who was being treated for Vitamin B 12 deficiency on the basis of history of delayed milestone, abdominal pain and hyperpigmentation of skin which was diagnosed as homocystinuria.


It is important to carry out ophthalmological examination in every case of megaloblastic anemia if associated with blurring of vision and mental retardation.

[Indexed for MEDLINE]

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