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- Title
Ocular signs in Wilson disease.
- Authors
Amalnath, Deepak S.; Subrahmanyam D. K. S
- Abstract
The article describes ocular signs of "Wilson disease," an autosomal-recessive disorder of copper metabolism due to mutation of the ATP7B gene in chromosome 13. Sunflower cataract occurs due to copper deposition in the anterior capsule and Kayser-Fleischer (KF) rings are due to iron deposition in the corneal limbus. Also discussed is "Hereditary hyperferritinemia cataract syndrome (HHCS)," an autosomal-dominant disorder; and penicillamine therapy to dissolve KF rings.
- Subjects
HEPATOLENTICULAR degeneration diagnosis; CATARACT; DIFFERENTIAL diagnosis; HISTORY of medicine; GENETIC mutation; TREMOR
- Publication
Annals of Indian Academy of Neurology, 2012, Vol 15, Issue 3, p200
- ISSN
0972-2327
- Publication type
Article
- DOI
10.4103/0972-2327.99716