Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

Chen, Celia S.; Phillips, Kerry; Scott, G. B. D.; Bennet, Graeme; Craig, Jamie E; Muecke, James; Suthers, Graeme

doi:10.1007/s10689-006-0011-y

Cited by 38 publications

(26 citation statements)

References 44 publications

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“…CHRPE is one of the earliest lesions to manifest and is reported to occur in about ninety percent of affected individuals [18]. In our study CHRPE was positive in seventy six percent.…”

Section: Discussionsupporting

confidence: 54%

Uses of a familial adenomatous polyposis registry

Dalpatadu¹,

Anwar²,

Wijesuriya³

et al. 2011

Ceylon Med. J.

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Objectives To improve the prognosis of patients with familial adenomatous polyposis (FAP) by early diagnosis and prophylactic treatment through a coordinated FAP register.Design The establishment and descriptive analysis of the prospective database of the FAP registry.Setting University surgical unit, Colombo North Teaching Hospital Ragama, Sri Lanka.Patients Probands were identified by tracing all diagnosed FAP patients from 1996 to 2010 and their family members at risk.Interventions The establishment of a polyposis register included the following stages: ascertainment of probands (first contact symptomatic FAP patients), construction of pedigrees, counselling relatives and prophylactic screening of family members at risk, treatment and follow up.Results Twenty seven enrolled probands (12 male and 15 female, age 11-52 years, median age 34 years) were investigated. Pedigree analyses showed 206 relatives at risk. Twenty four family members at risk were screened of a total of 51 registered individuals. The rate of spontaneous mutations was 41%. Thirty five were diagnosed with FAP. Eight were screen detected (median age -32 years) and 27 symptomatic (median age -34 years). Concomitant colorectal cancer was detected in 17 (63%) symptomatic individuals and in 1 (13%) screen detected individual. Colectomy was performed in 27 (77%) patients while 8 (23%) are on chemoprophylaxis. Congenital hypertrophic retinal pigment epithelium was detected in 15. Desmoids tumours (6%) and other extraintestinal manifestations including osteomas, sebacious cysts and dental abnormalities (34%) were also detected. A thyroid gland malignancy was screen detected while retinoblastoma, hepatoblastoma and cerebral tumours were seen in pedigrees.Conclusions A polyposis register may improve prognosis of FAP by early detection. It will help coordinate, optimise and streamline clinical management of patients with FAP and their relatives at risk.

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“…CHRPE is one of the earliest lesions to manifest and is reported to occur in about ninety percent of affected individuals [18]. In our study CHRPE was positive in seventy six percent.…”

Section: Discussionsupporting

confidence: 54%

Uses of a familial adenomatous polyposis registry

Dalpatadu¹,

Anwar²,

Wijesuriya³

et al. 2011

Ceylon Med. J.

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“…In terms of the number of fundus lesions in affected individuals there seems to be intrafamilial consistency. Type B lesions (according to the Berk classification of CHRPE), 18 small round pigmented dots, appear to be the most common type of lesion across the various studies included. A summary of the varied CHRPE characteristics seen in individual subjects across the different studies is provided in Figure 2.…”

Section: Discussion Of the Resultsmentioning

confidence: 98%

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

Rehan

Aye

2019

Clinical Exper Ophthalmology

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In classic familial adenomatous polyposis (FAP) adenomas become malignant. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a retinal pigmented lesion and is the earliest and most common potential extraintestinal manifestation of FAP. 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. Adhering to Preferred Reporting Items for Systematic Reviews and Meta Analyses guidelines our database search identified 102 relevant articles of which 13 were selected for further analysis. The percentage of FAP patients with CHRPE was found to be 80.00%, whereas the percentage of at‐risk patients with CHRPE was 31.12%. Despite various statistically significant findings, CHRPE alone cannot be used as a surrogate for diagnosing FAP in those with a positive family history. The authors advocate a combined approach of eye examinations, colonoscopy and genetic testing.

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“…The Gardner variant of FAP is characterized by a dominant family history of multiple colonic polyps and cranial hyperostosis [Wijn et al, 2007]. CHRPE, a pigmented fundus lesion, is reported to be increased in affected individuals [Chen et al, 2006]. Cranial hyperostoses in association with a cardiac rhabdomyoma are findings seen in the dominant neurocutaneous syndrome, TS.…”

Section: Discussionmentioning

confidence: 99%

Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium

Kannu

Perry

Rees³

et al. 2011

American J of Med Genetics Pt A

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We report on an individual affected by multiple juxtasutural cranial hyperostoses who later developed cervical spine hyperostoses with associated fusion anomalies. The propositus was not affected by a disorder of generalized overgrowth. An echocardiogram revealed areas of abnormal signal within the myocardium which were consistent with fatty infiltration on magnetic resonance imaging of the heart. We compare our case with a few previously reported cases that share phenotypic similarities but differ in some other clinical aspects. It is possible that these patients represent a phenotypic continuum resulting from a somatic mutation in an unknown gene.

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Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

Cited by 38 publications

References 44 publications

Uses of a familial adenomatous polyposis registry

Uses of a familial adenomatous polyposis registry

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

Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium

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