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A Clinical and Genetic Study

Pierre Labauge, MD, PhD; Valerie Krivosic, MD; Christian Denier, MD; Elisabeth Tournier-Lasserve, MD; Alain Gaudric, MD

Arch Ophthalmol. 2006;124:885-886.

Objectives  To define the frequency of retinal lesions in a large panel of patients with familial cerebral cavernomas and to screen the cerebral cavernous malformation genes in patients with cerebral and retinal lesions.

Methods  Fundus examination was proposed to each of the index patients of 70 families with cerebral cavernous malformation who have been included in a prospective clinical and neuroradiological follow-up. All of the coding exons of the KRIT1, MGC4607, and PDCD10 genes were screened as previously described.

Results  Of the 70 index patients, 60 were consecutively examined. The 10 remaining patients refused the fundus examination. Three of the 60 examined patients had a retinal cavernoma diagnosis. Three mutations were found: a point mutation within exon 5 of the KRIT1 gene, a large deletion that encompassed exons 1 and 2 of the MGC4607 gene, and a large genomic de novo deletion encompassing the whole PDCD10 gene.

Conclusions  Retinal cavernoma frequency can be estimated to be about 5% of the patients with familial cerebral cavernomas. Retinal cavernomas are not restricted to KRIT1 mutation carriers but can be observed in patients carrying a mutation in any of the 3 cerebral cavernous malformation genes.

Clinical Relevance  Five percent of patients with familial cerebral cavernomas have retinal cavernomas. These lesions are clinically asymptomatic. They can be associated with any of the 3 cerebral cavernous malformation genes.

Author Affiliations: Department of Neurology, Centre Hospitalo-Universitaire de Montpellier-Nîmes, Montpellier, France (Dr Labauge); Institut National de la Santé et de la Recherche Médicale Unit 740, Faculté de Médecine Lariboisière, Paris, France (Drs Labauge, Denier, and Tournier-Lasserve); and Department of Ophthalmology (Drs Krivosic and Gaudric) and Laboratoire de génétique (Dr Tournier-Lasserve), Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, Paris.

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