Case Reports of Previously Undiagnosed Cases of Homocystinuria Presenting as Displaced Lenses after Trivial Trauma
Anil Kumar Verma *
Department of Ophthalmology, DRPGMC Kangra at Tanda, Himachal Pradesh, India
Vandana Sharma
Department of Ophthalmology, DRPGMC Kangra at Tanda, Himachal Pradesh, India
Avantika Dogra
Department of Ophthalmology, DRPGMC Kangra at Tanda, Himachal Pradesh, India
R. K. Sharma
Department of Ophthalmology, DRPGMC Kangra at Tanda, Himachal Pradesh, India
Rajeev Tuli
Department of Ophthalmology, DRPGMC Kangra at Tanda, Himachal Pradesh, India
*Author to whom correspondence should be addressed.
Abstract
Eye is a window to a rare disease. Two children aged 9 year old male and 5 years old female presented with pain, redness and sudden diminution of vision in right eye and left eye respectively following trivial trauma while playing. On complete ocular examination it was found that in the involved eye of both cases the lens has dislocated anteriorly causing pupillary block glaucoma. Bio-chemical findings include increased levels of homocysteine in blood-52 µmol/L in Case-1 and 26.2 µmol/L in Case-2 (normal levels: 5.9-16 µmol/L). Both children were not a known case of homocystinuria. They were first diagnosed as a case of homocystinuria by an ophthalmologist.
Keywords: Homocystinuria, homocysteine, subluxation