Congenital hypertrophy of retinal pigment epithelium (CHRPE) with typical ‘bear track’ presentation

Document Type : Case Report

Authors

1 VITREORETINAL CONSULTATNT ISHA NETRALAYA KALYAN

2 VITREORETINAL CONSULTANT ISHA NETRALAYA KALYAN

3 CATARCT AND VITREORETINAL CONSULTATNT ISHA NETRALAYA THANE

Abstract

Congenital hypertrophy of retinal pigment epithelium (CHRPE) with typical ‘bear track’ presentation

Familial adenomatous polyposis (FAP) is an autosomal dominant condition caused by a mutation in APC tumor suppressor gene (chromosome 5q21).Affected patients have variable number of adenomatous polyps, mostly in the large intestine, that have nearly 100 percent progression to colorectal cancer with extracolonic manifestations such as desmoid tumours, osteomas, dental anomalies, and soft-tissue tumours.

Solitary congenital hypertrophy of retinal pigment epithelium (CHRPE) and its multi focal variant, congenital grouped pigmentation (bear tracks), are isolated ophthalmic entities and are not associated with FAP and Gardner syndrome. Retinal pigment epithelium lesions seen with FAP are ovoid ,multifocal , bilateral with irregular borders, haphazardly distributed with peripheral location often with a white tail of depigmentation at margins.

Patients found to have solitary or multifocal CHRPE on ophthalmoscopy can be counselled that they do not have an increased risk of colon cancer compared with that of the general population.

Keywords

Journal of Ophthalmology and Related Sciences

Articles in Press, Accepted Manuscript
Available Online from 11 March 2020

Files

Share

How to cite

Statistics