The Gardner syndrome. Significance of ocular features

Gardner syndrome is a dominantly inherited familial cancer syndrome characterized by intestinal polyposis, bony hamartomata, and various soft tissue tumors. The risk of malignancy during adult life is essentially 100%, but as yet no phenotypic marker nor biochemical or serological linkage have been...

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Bibliographic Details
Published inOphthalmology (Rochester, Minn.) Vol. 91; no. 8; p. 916
Main Authors Lewis, R A, Crowder, W E, Eierman, L A, Nussbaum, R L, Ferrell, R E
Format Journal Article
LanguageEnglish
Published United States 01.08.1984
Subjects
Adult
Child
Child, Preschool
Eye Diseases - etiology
Eye Diseases - genetics
Female
Fundus Oculi
Gardner Syndrome - complications
Gardner Syndrome - genetics
Gardner Syndrome - pathology
Genetic Linkage
Humans
Hypertrophy
Male
Middle Aged
Pedigree
Phenotype
Pigment Epithelium of Eye - pathology
Risk
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Summary:Gardner syndrome is a dominantly inherited familial cancer syndrome characterized by intestinal polyposis, bony hamartomata, and various soft tissue tumors. The risk of malignancy during adult life is essentially 100%, but as yet no phenotypic marker nor biochemical or serological linkage have been useful to identify the presence of the gene in early life. We studied three families in which multiple and bilateral patches of congenital hypertrophy of the retinal pigment epithelium are related uniquely to other phenotypic features of the Gardner gene. This readily identifiable characteristic may be useful to identify early in life individuals at risk for malignancy. We also suggest that the Gardner syndrome may be genetically heterogeneous.
ISSN:0161-6420
1549-4713
DOI:10.1016/S0161-6420(84)34213-0