Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: A clinical and genetic study

Archives of Ophthalmology

Volumn 124, Issue 6, 2006, Pages 885-886

  Labauge, Pierre ^a,b,d   Krivosic, Valerie ^c   Denier, Christian ^b   Tournier Lasserve, Elisabeth ^b,c   Gaudric, Alain ^c  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c HÔPITAL LARIBOISIÈRE   (France)

^d DEPARTMENT OF NEUROLOGY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN DAMAGE; BRAIN HEMANGIOMA; CAVERNOUS HEMANGIOMA; CONTROLLED STUDY; EXON; EYE INJURY; FOLLOW UP; GENE DELETION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RETINA CAVERNOMA; RETINA DISEASE;

ADOLESCENT; ADULT; AGED; APOPTOSIS REGULATORY PROTEINS; BRAIN NEOPLASMS; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; GENE DELETION; GENE FREQUENCY; HEMANGIOMA, CAVERNOUS; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; MEMBRANE PROTEINS; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; POINT MUTATION; PROSPECTIVE STUDIES; PROTO-ONCOGENE PROTEINS; RETINAL NEOPLASMS;

EID: 33745051068     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.124.6.885     Document Type: Article

References (15)

1. Craig HD, Günel M, Cepeda O, et al. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet. 1998;7:1851-1858.
2. Laberge-le Couteulx S, Jung HH, Labauge P, et al. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet. 1999;23:189-193.
3. Sahoo T, Johnson EW, Thomas JW, et al. Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet. 1999;8:2325-2333.
4. Bergametti F, Denier C, Labauge P, et al. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet. 2005;76:42-51.
5. Denier C, Goutagny S, Labauge P, et al. Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am J Hum Genet. 2004;74:326-337.
6. Wood MW, White RJ, Kernohan JW. Cavernous hemangiomatosis involving the brain, spinal cord, heart, skin and kidney. Mayo Clin Proc. 1957;32:249-254.
7. Labauge P, Enjolras O, Bonerandi JJ, et al. An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families. Ann Neurol. 1999;45:250-254.
8. Sarraf D, Payne AM, Kitchen ND, Sehmi KS, Downes SM, Bird AC. Familial cavernous hemangioma. Arch Ophthalmol. 2000;118:969-973.
9. Couteulx SL, Brezin A, Fontaine B, Tournier-Lasserve E, Labauge P. A novel KRIT1/ CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas. Arch Ophthalmol. 2002;120:217-218.
10. Labauge P, Laberge S, Brunereau S, Lévy C, Tournier-Lasserve E; Société française de Neurochirurgie. Hereditary cerebral cavernous angiomas. Lancet. 1998;352:1892-1897.
11. Cave-Riant F, Denier F, Labauge P, et al. Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with cerebral cavernous malformations. Eur J Hum Genet. 2002;10:733-740.
12. Denier C, Labauge P, Brunereau L, et al. Clinical features of cerebral cavernous malformations patients with KRIT1 mutations. Ann Neurol. 2004;55:213-220.
13. Pancurak J, Goldberg MF, Frenkel M, Crowell RM. Cavernous hemangioma of the retina. Retina. 1985;5:215-220.
14. Messmer E, Laqua H, Wessing A, et al. Nine cases of cavernous hemangioma of the retina. Am J Ophthalmol. 1983;95:383-390.
15. Messmer E, Font RL, Laqua H, Höpping W, Naumann GOH. Cavernous hemangioma of the retina. Arch Ophthalmol. 1984;102:413-418.