OCULAR FUNDUS EXAMINATION IN THE DETECTIO N OF GARDNERS-SYNDROME

Citation
S. Milazzo et al., OCULAR FUNDUS EXAMINATION IN THE DETECTIO N OF GARDNERS-SYNDROME, Journal francais d'ophtalmologie, 16(12), 1993, pp. 651-656
Citations number
NO
Categorie Soggetti
Ophthalmology
ISSN journal
01815512
Volume
16
Issue
12
Year of publication
1993
Pages
651 - 656
Database
ISI
SICI code
0181-5512(1993)16:12<651:OFEITD>2.0.ZU;2-F
Abstract
Gardner's syndrome is an adenomatous polyposis coli characterized by e xtracolonic manifestations such as congenital hypertrophy of retinal p igment epithelium. This inherited autosomal dominant disorder has a ma rked propensity to malignant transformation, so it is important to det ect affected patients early. Ophthalmologic manifestations are simple, non invasive reliable and very sensitive. The gene responsible for th is disorder was localized to' the long arm of the fifth chromosome. Th e results of investigation in 3 families are reported herein and compa red with the data of the literature.