Optical Coherence Tomography in Congenital Hypertrophy of the Retinal Pigment Epithelium

Abstract

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) shows different findings during optical coherence tomography scans. Homogeneously black CHRPE shows a hyperreflective band at the level of retinal pigment epithelium (RPE) with total shadowing of deeper structures, while gray patches of CHRPE with lacunae present an irregular and interrrupted hyperreflective RPE band with penetration of the optical beam into the choroid. Optical coherence tomography can be a useful test in the study of pigmented tumors of retina and RPE.

Optical Coherence Tomography Characteristics of the Choroid Underlying Congenital Hypertrophy of the Retinal Pigment Epithelium

“…The published literature describes the unusual features of the overlying retina and RPE in CHRPE lesions [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. The RPE cells are known to be taller with increased pig- ment, and the overlying retina to be atrophied (mainly the outer retina).…”

“…With the use of optical coherence tomography, descriptions of the choroid evolved in line with the improved, deeper imaging techniques. Time-domain OCTs were found to have disturbed optical transmission because the heavy pigment of the CHRPE shadowed the choroid [6,9,10]. Spectral-domain OCT reported a similar limitation [7,8], although one report described "excavation" of the choroid beneath a CHRPE lesion [11].…”

“…Histopathology demonstrates atrophied, sometimes disorganized retina with photoreceptor degeneration [1][2][3][4]. Both time domain and spectral domain optical coherence imaging have confirmed these findings [3,[5][6][7][8][9][10][11][12][13][14].…”

“…As suggested by its name, the primary pathological finding in congenital hypertrophy of the retinal pigment epithelium (CHRPE) is tall retinal pigment epithelium (RPE) cells with increased size and number of pigment granules [1][2][3][4]. This corresponds with hyperreflectivity and thickening of the RPE on optical coherence tomography [3,[5][6][7][8][9][10][11][12][13][14]. It is also well recognized that the overlying retina is abnormal.…”

In vivo visualization of variable photoreceptor alteration in a case of peripapillary congenital hypertrophy of the retinal pigment epithelium using spectralis ® high magnification module

“… 2 The lesion is quite common and its reported prevalence is up to 4.4% of the normal population. 3 , 4 , 5 It must be differentiated from other pigmented lesions such as melanoma, and Grouped Pigmentation of the Retina (GPR) which consists of smaller, multiple lesions, arranged in a typical “bear track” pattern. 4 The latter has been associated with Familial Adenomatous Polyposis, Gardner Syndrome, and colon cancer, while classic CHRPE is a benign lesion, although rare malignant transformation of intralesional nodules has been described.…”