Long-Term Follow-Up of Congenital Simple Hamartoma of the Retinal Pigment Epithelium: A Case Report

Abstract

Background: Congenital simple hamartoma of the retinal pigment epithelium (CSHRPE) is a rare benign tumor of the retinal pigment epithelium characterized by a focal, darkly pigmented nodule in the macular lesion in healthy persons. We report a case of CSHRPE with long-term follow-up. Case: A 41-year-old Japanese woman was incidentally discovered to have a dark lesion on the fundus of the left eye. We evaluated the patient by measuring her best-corrected visual acuity (BCVA) and by slit-lamp biomicroscopy, fundus color photography, and optical coherence tomography (OCT) over a 10-year period. The BCVA gradually declined during the early follow-up period, having decreased from 1.2 to 0.8 in the left eye 3 years after the initial examination, and then has been maintained for the following 7 years. The lesion did not show a change in OCT 10 years after the first examination. Conclusion: It is important to follow a CSHRPE carefully over the long term because visual acuity might decrease.

Multifocal Congenital Simple Hamartoma of the Retinal Pigment Epithelium: A Multimodal Imaging Case Study

“…Multifocal electroretinography (mfERG) and microperimetry findings in CSHRPE do not consistently demonstrate characteristic features of the tumor, primarily due to the lesion being smaller in size than the stimulating spot size. While some studies report normal mfERG patterns despite reduced vision [ 6 ], others note a marked reduction in central amplitude [ 14 ]. Microperimetry and adaptive optics have been used to assess retinal sensitivity and photoreceptor arrangement in CSHRPE cases, revealing consistent sensitivity responses over the pigmented tumor and focal decreases in retinal sensitivity in areas of RPE atrophy adjacent to the tumor [ 4 ].…”

Macular Edema in a Peculiar Case of Pigmentary Maculopathy

“…3 Several studies have described hypoautofluorescence of the lesions on FAF images and hypofluorescence in early-phase fluorescein angiography (FA) with/ without discrete hyperfluorescence around the lesion in the late phase of the angiogram. 3,[5][6][7] Fluorescein angiography may reveal feeder vessels related to the lesion. Similar to other studies, [5][6][7][8][9] the current case had intrinsic flow to the pigmented lesions at the SCP, seen bilaterally on OCTA and more evident in the left eye (Figures 6 and 7).…”

“…3,[5][6][7] Fluorescein angiography may reveal feeder vessels related to the lesion. Similar to other studies, [5][6][7][8][9] the current case had intrinsic flow to the pigmented lesions at the SCP, seen bilaterally on OCTA and more evident in the left eye (Figures 6 and 7). The retinal vessels were oriented in apparent continuity with the lesion vasculature.…”

“…After those four publications, 21 others characterized the clinical and multimodal imaging features of CSHRPE. 5–26 In total, 42 patients have been described of age between 8 and 80 years. Of these cases, only a single case of bilateral disease has been reported in a patient with Down syndrome.…”

“…2,3 In the 42 cases reported in the literature, 21 of 42 (50%) had a best-corrected visual acuity of 20/25 or better, 5 of 42 (12%) between 20/30 and 20/40, and 16 of 42 (38%) below 20/40. 3,5–26 The factors related to decreased visual acuity are macular edema, 11,13 amblyopia, 11 vitreomacular traction and surrounding foveal traction with an epiretinal membrane, 2,6,11 and tractional macular hole formation. 12,25 Interestingly, mild surrounding retinal traction is a common finding and may provide the pathophysiological basis for the development of foveal traction and macular holes.…”