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A Novel KRIT1/CCM1 Truncating Mutation in a Patient With Cerebral and Retinal Cavernous Angiomas
Arch Ophthalmol. 2002;120:217-218.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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Cerebral cavernous malformations (CCM) are defined by abnormally enlarged
capillary cavities without intervening brain parenchyma. Clinical symptoms
include seizures, hemorrhage, and focal neurological deficits. Their prevalence
is close to 0.5% in the general population. Familial forms are increasingly
recognized. Three CCM loci were mapped to chromosomes 7q (CCM1), 7p (CCM2), and 3q (CCM3). KRIT1, a protein of unknown function, was recently identified
as the mutated protein in families with the CCM1
gene.1
Cavernomas have been observed in other organs such as the retina. We
report what is to our knowledge the first observation of a KRIT1 mutation in a patient with retinal and cerebral cavernous angiomas.
Report of a Case
A 34-year-old woman was followed up for recurrent herpetic keratitis
of the left eye. A fundus examination and retinal angiograms of the same eye
showed a peripheral retinal vascular lesion, characteristic of a cavernous
angioma (Figure 1. . . [Full Text of this Article] Comment
Corresponding author: Pierre Labauge, MD, Faculté de Médecine
Lariboisière, Laboratoire de Génétique des Maladies Vasculaires,
10 Avenue de Verdun, EPI 99-21, 75010 Paris, Cedex, France (e-mail: labauge@hotmail.com).
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