The Gardner syndrome. Significance of ocular features.

Abstract:

: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.

journal_name

Ophthalmology

journal_title

Ophthalmology

authors

Lewis RA,Crowder WE,Eierman LA,Nussbaum RL,Ferrell RE

doi

10.1016/s0161-6420(84)34213-0

subject

Has Abstract

pub_date

1984-08-01 00:00:00

pages

916-25

issue

8

eissn

0161-6420

issn

1549-4713

pii

S0161-6420(84)34213-0

journal_volume

91

pub_type

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