chemamr
Moderator and PGY1
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Which clinical finding can be seen in a fundoscopy??
Which is the involved gene?
How is the screening for these patients?
Which is the treatment?
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| bobby
Forum Guru
Topics: 136
Posts: 569
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Congenital hypertrophy of the retinal pigment epithelium (CHRPE)
APC on chromosom 5
Patients with more than 3 CHRPE in one eye or a bilateral CHRPE, as well as patients with a positive family history and one unilateral solid CHRPE require further gastroenterological evaluation with colonoscopy.
FAP leads to cancer of the colon by age 35. so prophylactic colectomy is performed.
maybe the eye lesion can be corrected with laser therapy. (??:no
as of today, there is no treatment. the treatment will be to correct the chromosomal anomality.
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| chemamr
Moderator and PGY1
Topics: 703
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i just can say: EXCELLENT Bobby!!! 
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| vikram25
Forum Newbie
Topics: 2
Posts: 7
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as bobby said no definitive treatment but to prevent malignancy total cole ctomy with ileal pouch anal anastomoses(IPAA) is done with follow up
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| chemamr
Moderator and PGY1
Topics: 703
Posts: 4,441
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good point vikram25
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