CONGENITAL HYPERTROPHY OF RETINAL PIGMENT EPITHELIUM (CHRPE) WITH TYPICAL ‘BEAR TRACK’ PRESENTATION

Amit S. Nene, Pushpanjali Ramteke, Smitesh Shah

2019

Full text Open access: Gold Metadata (CSL-JSON)

DOI 10.21608/jors.2019.28322

Data confidence 70 medium

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Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominant condition caused by a mutation in APC tumorsuppressor gene (chromosome 5q21). Affected patients have nearly 100 percent progression to colorectal cancer.Solitary congenital hypertrophy of retinal pigment epithelium (CHRPE) and its multi focal variant, congenital groupedpigmentation (bear tracks), are isolated ophthalmic entities and are not associated with FAP and Gardner syndrome.Patients found to have solitary or multifocal CHRPE on ophthalmoscopy can be counselled that they do not have anincreased risk of colon cancer compared with that of the general population.