Minerva
BMJ 2008; 337 doi: https://doi.org/10.1136/bmj.a2572 (Published 19 November 2008) Cite this as: BMJ 2008;337:a2572All rapid responses
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Dear Minerva
We note the comments of M Ashwin Reddy (Shields, Shields and Shah
1992) stating that the pigmented lesions shown in our photograph are not
typical of association with familial polyposis coli. However we would
refer the author to the paper by Peter Swann, which dates from 1999 and so
comes after the paper quoted by Reddy. This article states ‘these patches
of pigment are black with sharply defined edges, often with a depigmented
halo just inside their border. They may lose pigment with time (known as a
sun-burst effect) and can be large and isolated, or small and grouped
together (‘bear tracks’). While they have no potential for malignant
change, they may be a marker for familial adenomatous polyposis (FAP).’
Also, the paper by Campbell, Spence and Sparks (1994, so also after the
paper by Shields, Shields and Shah) stated in conclusion: ‘Large lesions
approximately one optic disk or greater in diameter (even if the lesion is
solitary), or grouped lesions i.e. "paw marks" should be considered
significant.’
There is therefore controversy in the literature, and with these two
paper5s coming after Shah’s one, we cannot take it as the definitive
answer. It would however be tempting to do so as it would limit the number
of referrals for colonoscopy if it were definitive.
References:
1. Shields JA, Shields CL, Shah PG et al. Lack of association among
typical congenital hypertrophy of the retinal pigment epithelium,
adenomatous polyposis, and Gardner syndrome. Ophthalmology 1992;99:1709-
13.
2. Swann PG. Some examples of fundus pigmentation and their
significance. Optometry Today 1999 Oct 22 22-24.
3. Campbell, WJ, Spence RAJ, Parks TG. The role of congenital
hypertrophy of the retinal pigment epithelium in screening for familial
adenomatous polyposis. Int J Colorect Dis (1994) 9: 191-196
Competing interests:
None declared
Competing interests: No competing interests
Dear Minerva,
The picture of Congenital Hypertrophy of the Retinal Pigment
Epithelium shown in Minerva this week (BMJ 2008;337:a2572) is not
associated with familial adenomatous polyposis (1) and the patient does
not require a colonoscopy . The lesions that can be associated with
familial adenomatous polyposis are ovoid or fish-like and appear in both
eyes (so called Pigmented Ocular Fundus Lesions). There needs to be more
than 3 altogether to consider an association.
Reference:
1. Shields JA, Shields CL, Shah PG et al. Lack of association among
typical congenital hypertrophy of the retinal pigment epithelium,
adenomatous polyposis, and Gardner syndrome. Ophthalmology 1992;99:1709-
13.
Competing interests:
None declared
Competing interests: No competing interests
Ocular lesions associated with Familial Adenomatous Polyposis
Dear Minerva,
The case of a 49-year-old man referred to the ophthalmologist with
pigmented lesion in the right retina conveys an impression that patients
with this pattern of retinal pigmentation are at risk of familial
adenomatous polyposis (FAP) and the patient and first degree relatives
require regular endoscopic examinations.
Solitary congenital hypertrophy of the retinal pigment epithelium
(CHRPE) and congenital grouped pigmentation commonly known referred to as
“bear tracks” are often seen by ophthalmologists and do not indicate a
greater risk of developing intestinal cancer (1). In contrast, pigmented
retinal lesions seen in FAP are multifocal, bilateral (in 86% cases) with
an irregular border and a tail of depigmentation on one margin; these
lesions do not show the organized sectoral arrangement that characterizes
“bear tracks” (2). Ophthalmic examination in patients with FAP and first
degree relatives facilitates predictive diagnosis and allows non-invasive
risk assessment. If these lesions are seen in an individual with a FAP
pedigree, it is almost 100% specific for development of adenomatous
polyposis in that patient (3).
Therefore, although presence of solitary or grouped retinal
pigmentation in a patient with a FAP pedigree must be considered with a
degree of suspicion as an indicator of possible colonic polyps. However,
their presence in one eye of a patient at no genetic risk of FAP does not
warrant regular endoscopic examination of the patient or their first
degree relatives.
References:
1.Shields JA, Shields CL, Shah PG, Pastore DJ, Imperiale SM Lack of
association among typical congenital hypertrophy of the retinal pigment
epithelium, adenomatous polyposis and Gardner syndrome. Ophthalmology
1992; 99: 1709-1713
2.Tiret A, Parc C Fundus lesions of adenomatous polyposis. Curr Opin
Ophthalmol 1999; 10: 168-172
3.Rushwurm I, Zehetmayer M, Dejaco C, Wolf B, Karner-Hanusch J
Ophthalmic and genetic screening in pedigrees with familial adenomatous
polyposis. Am J Ophthalmol 1998; 125: 680-686
Competing interests:
None declared
Competing interests: No competing interests