![]() Optical coherence tomography findings include retinal thinning and photoreceptor loss over lesions, with the absence of RPE and increased transmission of light in areas of lacunae.Lesions typically block underlying choroidal fluorescence, except in areas of depigmented lacunae or haloes. No leakage is demonstrated on fluorescein angiography (FA) or indocyanine green angiography (ICGA).Non-pigmented haloes or lacunae may show autofluorescence. Lesions typically demonstrate hypo autofluorescence on fundus autofluorescence (FAF) due to their high melanin content.Fundus photography is useful for documentation and follow-up of lesions and wide-field scanning-laser ophthalmoscopy has been recommended as a screening tool.Īncillary testing may be beneficial in uncertain cases. The diagnosis of CHRPE is usually made clinically and no diagnostic procedures are generally necessary. Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) Diagnosis Atypical CHRPE is the earliest and most common extra-colonic manifestation of FAP, present in up to 90% of patients. The prevalence of CHRPE in the general optometric population has been estimated to be 1.2%. ![]() Left untreated, virtually all FAP patients develop colorectal carcinoma/s by middle age.įAP sub-types, including Gardner syndrome (FAP plus skeletal hamartomas and various soft tissue tumors) and Turcot syndrome (FAP plus various brain tumors), are also associated with atypical CHRPE. It is a congenital hamartoma of the retinal pigment epithelium (RPE) and occurs in three variant forms: solitary (unifocal), grouped (multifocal), and atypical.Ītypical CHRPE is associated with familial adenomatous polyposis (FAP), an autosomal dominant cancer syndrome, characterized by numerous adenomatous polyps of the colon and rectum. Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) DISEASE entityĬongenital hypertrophy of the retinal pigment epithelium (CHRPE) is a typically benign, asymptomatic, pigmented fundus lesion. The diagnosis was confirmed as Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE). In optical coherence tomography, a loss of the external retinal layers was seen in the area of the lesion and no retina was seen in the lacunae’ area. The lesion showed hypo autofluorescence at the dark parts that correlate with the known histopathologic evidence of lack of lipofuscin in the retinal pigment epithelium of congenital hypertrophy of retinal pigment epithelium (CHRPE) and mild hyper autofluorescence that correlate with scleral autofluorescence at the lacunae. Moreover, an ultrasound examination confirmed that the lesion was flat. On clinical examination, a flat black lesion that looked like a flower was observed.
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