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Logo of bmjcrInstructions for authorsCurrent ToCBMJ Case Reports
 
BMJ Case Rep. 2010; 2010: bcr0520103044.
Published online Sep 21, 2010. doi:  10.1136/bcr.05.2010.3044
PMCID: PMC3029978
Rare disease
An ocular presentation of familial tumoral calcinosis
Emer McGrath,1 Fiona Harney,2 and Frank Kinsella2
1Department of Medicine, University College Hospital, Galway, Ireland
2Department of Ophthalmology, University College Hospital, Galway, Ireland
Correspondence to Emer McGrath, emermc.grath/at/gmail.com
Abstract
This case report presents the ophthalmic features and complications of a 56-year-old Caucasian woman with familial tumoral calcinosis. She presented to our ophthalmology clinic with a 3-month history of blurring of her vision. She had been diagnosed 14 years earlier with familial tumoral calcinosis. Ophthalmological examination revealed calcific depositions on the eyelid margins, perilimbal calcific deposits and angioid streaks. An optical coherence tomography scan of the left eye revealed a choroidal neovascular membrane. Deterioration in vision occurred secondary to subretinal haemorrhage, resulting from the angioid streak. The patient was treated with a series of three intravitreal ranibizumab injections to her left eye, which led to an improvement in her visual acuity (VA). The patient is being closely followed up with monthly appointments, and to date, after 6 months of follow-up, there has been no further deterioration in her VA or reactivation of the choroidal neovascular membrane.
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