Suspect asymptomatic lesions: Congenital hypertrophy of the  Retinal Pigment Epithelium (CHRPE)

Braga, Carolina Serpa; Ricardo, Olívia Moura de Paula; Cordeiro, Frederico de Miranda; Vieira, Júlia Maggi; Nogueira, Fábio Borges

doi:10.22336/rjo.2021.55

Cited by 4 publications

(3 citation statements)

References 3 publications

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“…Nine out of 10 patients with GS presents with hypertrophy of the retinal pigmented layer according to a report 21 . This is rarely symptomatic and are often discovered incidentally during routine eye examination 50 …”

Section: Discussionmentioning

confidence: 99%

“… 21 This is rarely symptomatic and are often discovered incidentally during routine eye examination. 50 …”

Section: Discussionmentioning

confidence: 99%

“…21 This is rarely symptomatic and are often discovered incidentally during routine eye examination. 50 The authors found multiple osteomata, epidermoid cysts, multiple dental abnormalities as well as intestinal polyposis in the index patient. No history of rectal bleed or bowel perforation was found on colonoscopy.…”

Section: Extraintestinal Presentationsmentioning

confidence: 94%

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A rare case of Gardner syndrome in an African adult male: A case report

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Section: Discussionmentioning

confidence: 99%

“… 21 This is rarely symptomatic and are often discovered incidentally during routine eye examination. 50 …”

Section: Discussionmentioning

confidence: 99%

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A rare case of Gardner syndrome in an African adult male: A case report

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Progressive pigmented fundus lesion after 23 years—Treatment or observation?

et al. 2022

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Congenital hypertrophy of the retinal pigment epithelium in the patients with familial adenomatous polyposis colon (case report)

et al. 2022

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Familial adenomatous polyposis is one of the most difficult to diagnose diseases in medical practice, at an early stage, multiple colorectal adenomas are clinically most often not manifested in any way, and at a later stage they inevitably transform into colorectal cancer. Poor clinical manifestation rarely make it possible to establish a diagnosis before the onset of malignancy, so extraintestinal symptoms can be a lifeline in the diagnosis of this disease. Congenital retinal pigment epithelium hypertrophy is a benign tumor that develops from the retinal pigment epithelium and can occur both in an isolated form and in patients with familial adenomatous polyposis of the colon. Unfortunately, in the Russian-language clinical literature there are practically no scientific papers devoted to this problem. Clinical case of patient P., 35 years old, who was routinely admitted to the surgical unit with a diagnosis of familial adenomatous polyposis is presented. During the additional examination, multiple tumor-like lesions of the eyes were revealed according to the type of hypertrophy of the retinal pigment epithelium. From the anamnesis, it was found out that in 2017 the patient underwent a check-up by an ophthalmologist, where an early pathological condition was detected for the first time, but the doctor’s attention was not paid to this clinical manifestation, and the patient was not subsequently referred for a consultation with a coloproctologist with suspicion of familial adenomatous polyposis.

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Suspect asymptomatic lesions: Congenital hypertrophy of the Retinal Pigment Epithelium (CHRPE)

Abstract: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Cited by 4 publications

References 3 publications

A rare case of Gardner syndrome in an African adult male: A case report

A rare case of Gardner syndrome in an African adult male: A case report

Progressive pigmented fundus lesion after 23 years—Treatment or observation?

Congenital hypertrophy of the retinal pigment epithelium in the patients with familial adenomatous polyposis colon (case report)

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