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

https://doi.org/10.33878/2073-7556-2022-21-2-121

Abstract

   Comments on the article "Congenital hypertrophy of the retinal pigment epithelium in a patient with familial adenomatous polyposis of the large intestine (clinical case)", authors: Kryachko A. A., Chuguzov K. D., Durleshter V. M., Karagodina P. A.

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Russian Federation


References

1. Traboulsi E. T., Maumenee I. H., Krush A. J., et al. Congenital hypertrophy of the retinal pigment epithelium predicts colorectal polyps in Gardner’s syndrome. BMJ. 1989; 298: 353.

2. Wallis Y. L., Macdonald F., Hulten M., et al. Genotype-Phenotype correlation between position of constitutional APC gene mutation and CHRPE expressed in FAP. Hum Gene. 1994; 94: 543–548.

3. Coleman P., Barnard N. Congenital hypertrophy of the retinal pigment epithelium: prevalence and ocular features in the optometric population. Ophthalmic Physiol Opt. 2007; 27: 547–555.

4. Kuzminov A. M., Chubarov Yu. Yu., Obukhov V. K., Sachkov I. Yu. Outpatient diagnosis of diffuse colon polyposis. Materials of the V All-Russian Congress of Oncologists "High technologies in oncology". 2000; 1: 325–327. (in Russ.).

5. Bonnet L. A., Conway R. M., Li-Anne Lim. Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) as a Screening Marker for Familial Adenomatous Polyposis (FAP): Systematic Literature Review and Screening Recommendations. Clinical Ophthalmology. 2022; 16: 765–774.

6. Tsukanov A. S., Pospekhova N. I., Shubin V. P., Kuzminov A. M., et al. Mutations in the APC gene in Russian patients with the classic form of familial colon adenomatosis. Genetics. 2017; 53 (3): 356–363. (in Russ.).


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For citations:


Congenital hypertrophy of the retinal pigment epithelium in the patients with familial adenomatous polyposis colon (case report). Koloproktologia. 2022;21(2):121. (In Russ.) https://doi.org/10.33878/2073-7556-2022-21-2-121

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ISSN 2073-7556 (Print)
ISSN 2686-7303 (Online)