Research status of congenital hypertrophy of the retinal pigment epithelium / 国际眼科杂志(Guoji Yanke Zazhi)

@#Congenital hypertrophy of the retinal pigment epithelium(CHRPE)is a rare fundus lesion. It usually does not cause serious clinical symptoms. However, incorrect diagnosis and treatment frequently occurred clinically because most ophthalmologists have little knowledge about it. Thus, we conducted the current study to investigate the clinical characteristics and prognosis of CHRPE, to provide evidence for differential diagnosis clinically and further guideline for treatment and follow-up.

Atypical Congenital Hypertrophy of the Retinal Pigment Epithelium in Gardner's Syndrome

Congenital hypertrophy of the retinal pigment epithelium (CHRPE)is a well circumscribed, flat, pigmented fundus lesion that have a variety of shapes. It is the most common extracolonic manifestation of Gardner's syndrome. The number and shape of CHRPE should arouse suspicion of increased risk of polyposis.We experienced one case of Gardner's syndrome in a family history of colonic carcinoma that showed atypical congenital hypertrophy of the retinal pigment epithelium, osteoma, epidermal cyst and polyposis combined with colonic carcinoma.A total colectomy and ileostomy were performed.So we reported it with the review of literature of clinical value of CHRPE as a predictive marker of Gardner's syndrome.

Congenital Hypertrophy of the Retinal Pigment Epithelium in Familial Colonic Polyposis

Congenital hypertrophy of the retinal pigment epithlium(CHRPE)is a well-circumscribed, flat, pigmented fundus lesion that is presented solitary or grouped. It is the most common extracolonic manifestation of familial adenomatous polyposis(FAP). Unfortunately, there is no phenotypic biochemical abnormality or serological marker which indicates whether or not a family member will be affected FAP. However, most of patients with polyposis have CHRPE which is usually multiple and bilateral, The presence of CHRPE in a family member should therefore arouse suspicion of increased risk of polyposis. We experienced one case of familial adenomatous polyposis that showed no extracolonic manifestation except multiple, bilateral fundus lesions. A prophylactic total colectomy was performed. So we report it with the review of literature of clinical value of CHRPE as a predictive congenital marker of FAP.

Two Cases of Congenital Hypertrophy of Retinal Pigment Epithelium Associated with Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is a rare hereditary disease that undergo malignant change and recent reports have described a very high incidence (87.5%-100.0%) of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in Gardner's syndrome and familial adenomatous polyposis. Recognization of CHRPE lesion in ophthalmological screening test for the familial members with FAP is helpful not only in prediciting the presence of adenomatous polyposis and malignant carcinoma but also in genetic counselling. Authors have examined and report 2 female patients with similar CHRPE lesions in both fundus and thus diagnosed FAP following surgical examination.