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  Vol. 120 No. 2, February 2002 TABLE OF CONTENTS
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  Clinicopathologic Reports, Case Reports, and Small Case Series
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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.

Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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).



THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study.
Labauge et al.
Arch Ophthalmol 2006;124:885-886.
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Biallelic Somatic and Germ Line CCM1 Truncating Mutations in a Cerebral Cavernous Malformation Lesion
Gault et al.
Stroke 2005;36:872-874.
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Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas
Reich et al.
Neurology 2003;60:1135-1138.
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Vascular morphogenesis: tales of two syndromes
Marchuk et al.
Hum Mol Genet 2003;12:R97-112.
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