The role of congenital hypertrophy of the retinal pigment epithelium in screening for familial adenomatous polyposis

@article{Campbell2004TheRO,
  title={The role of congenital hypertrophy of the retinal pigment epithelium in screening for familial adenomatous polyposis},
  author={William J. Campbell and Roy A. J. Spence and T. G. Parks},
  journal={International Journal of Colorectal Disease},
  year={2004},
  volume={9},
  pages={191-196}
}
Retinal examination by indirect ophthalmoscopy was performed on seventy members from 20 kindreds demonstrating the clinical manifestations of familial adenomatous polyposis and forty controls. Thirty-four of 43 affected patients manifested CHRPE lesions compared with 2 of 27 at risk and 2 of 40 controls giving a sensitivity of 79% and specificity of 95% based on the control group. The difference between the affected and at risk groups was significant (Chi-squared=34.098, 1 df, P=0.001). The low… 
In patients with a positive family history of familial adenomatous polyposis can the condition be diagnosed from the presence of congenital hypertrophy of the retinal pigment epithelium detected via an eye examination: A systematic review
TLDR
This review aims to summarize and analyse all of the published data on CHRPE in patients with classic FAP and then ascertain whether these patients should undergo a relatively cheap and non‐invasive dilated fundus examination to screen for CHRPE.
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References

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TLDR
Members of 53 kindreds with familial adenomatous polyposis were examined for congenital hypertrophy of the retinal pigment epithelium (CHRPE) and extracolonic manifestations to assess the value of CHRPE as a predictive marker for FAP.
Association of congenital hypertrophy of the retinal pigment epithelium with familial adenomatous polyposis
TLDR
Ophthalmological examinations were performed in 49 people (43 patients) from 24 families affected by familial adenomatous polyposis (FAP) and all 12 patients were negative for CHRPE.
Congenital hypertrophy of the retinal pigment epithelium as a marker for familial adenomatous polyposis
TLDR
The gene responsible for CHRPE appears to be transmitted from one generation to another, demonstrated by the high sensitivity of the retinal lesions in patients with FAP alone and with other ECM.
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TLDR
No association was found between Gardner syndrome and the Retinal lesions when these patients were compared to patients without any stigmata of Gardner syndrome, nor was any significant association found when each of the expressions was compared individually with the presence of the pigmented retinal lesions.
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TLDR
To assess the reliability of this marker 40 patients with familial adenomatous polyposis, representing all 25 pedigrees with living affected members in the Northern region'spolyposis registry, were examined for hypertrophy of the retinal pigment epithelium.
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TLDR
A postmortem examination of the eyes of a 61-year-old woman with familial adenomatous polyposis was performed using light microscopy and transmission and scanning electron microscopy, and the presence of abnormal pigment granules in cells within the lesions and cells from areas of grossly normal RPE indicates a generalized defect in melanogenesis.
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TLDR
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TLDR
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TLDR
The multiplicity of the pigmented fundus lesions and their association with diffuse disturbances of the retinal pigment epithelium in the same eye suggest a widespread expression of the abnormal gene in the retina pigment epithelial cells of the retina.
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