The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations

Eye

Volumn 11, Issue 3, 1997, Pages 298-300

  Reck, A C ^a,c   Bunyan, D ^a   Eccles, D ^b   Humphry, R ^a  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

Author keywords

Congenital hypertrophy of the retinal pigment epithelium; Familial adenomatous polyposis

Indexed keywords

ARTICLE; CLINICAL ARTICLE; COLON POLYPOSIS; GENE MUTATION; HUMAN; PIGMENT EPITHELIUM; RETINA DISEASE;

EID: 0030765423     PISSN: 0950222X     EISSN: None     Source Type: Journal    
DOI: 10.1038/eye.1997.65     Document Type: Article

References (7)

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2. Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Boker T, et al. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet 1995;4:337-40.
3. Traboulsi EI, Krush AJ, Eldon MS, Gardner J, Booker SV, Offerhaus GJA, et al. Prevalence and importance of pigmented ocular fundus lesions in Gardener's syndrome. N Engl J Med 1987;316:11.
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5. Bunyan DJ, Eccles D, Shea-Simonds J, Reck AC. Genotype-phenotype correlations of novel causative APC gene mutations in patients with familial adenomatous polyposis. J Med Genet 1995;32:924-31.
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