Optical Coherence Tomography Angiography of Congenital Simple Hamartoma of the Retinal Pigment Epithelium

Abstract

Purpose: To describe the optical coherence tomography angiography features of congenital simple hamartoma of the retinal pigment epithelium. Methods: Case report. Results: A 14-year-old boy was referred for an asymptomatic fundus tumor in the left eye. Visual acuity was 20/20 in the right eye and 20/40 in the left eye. The right fundus was normal. The left fundus disclosed a gray-white nodular retinal mass of 2-mm diameter in the juxtafoveal region, protruding into the vitreous cavity and causing radial retinal folds. The mass demonstrated echodensity without calcification on ultrasonography, hypoautofluorescence on short-wavelength autofluorescence, and mixed hyporeflective and hyperreflective areas on near-infrared reflectance imaging. By fluorescein angiography, the mass showed absolute hypofluorescence through the arteriovenous phase and diffuse late hyperfluorescence and staining. Optical coherence tomography revealed an optically dense lesion with abrupt posterior shadowing, whereas optical coherence tomography angiography showed an extensive haphazard intratumoral vascular network with fairly large-caliber (100–200 microns) vessels occupying full-thickness tumor, demonstrating more vascular details than visualized on fluorescein angiography. Serial segmental evaluation of the optical coherence tomography angiography en face images confirmed an intratumoral vascular network for full tumor depth down to retinal pigment epithelium, not related to projection artifact. Final diagnosis was congenital simple hamartoma of the retinal pigment epithelium. Considering the benign tumor, observation was recommended. Conclusion: Optical coherence tomography angiography of congenital simple hamartoma of the retinal pigment epithelium revealed an extensive intratumoral, haphazard, large-caliber vascular network, more evident than seen on fluorescein angiography. Optical coherence tomography angiography has added new insight into this rare tumor.

Optical Coherence Tomography Angiography Imaging of a Congenital Simple Hamartoma of the Retinal Pigment Epithelium

“…Recently, Arjmand and colleagues reported a case of a simple congenital hamartoma of the RPE that was investigated with OCTA as part of a multimodal approach. 11 Such evidence is of great clinical relevance because of the new information concerning the intrinsic vascularization of these tumors that will be gleaned in the future using OCTA.…”

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

“…Recently, OCTA has been developed as a noninvasive examination, making it possible to analyze vascular networks three-dimensionally. Arjmand et al [ 5 ] analyzed a case of CSHRPE using OCTA and showed large-caliber vessels throughout the tumor at the superficial and deep plexuses and the outer retina but no flow at the choriocapillaris. In our case, vascular networks were apparent at the superficial and deep plexuses in the tumor as in the previous report.…”

“…Shields et al [ 1 ] reported five cases and defined the lesions as CSHRPE in 2003. There have been only a few reports of CSHRPE worldwide and, to the best of our knowledge, only two Asian cases [ 1 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 ]. The previous reports noted that fluorescein angiography (FA) and optical coherence tomography (OCT) were performed to diagnose CSHRPE, whereas one report analyzed CSHRPE with OCT angiography (OCTA) [ 5 ].…”

Near-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients

“…The congenital simple hamartoma of the RPE (CSHRPE) is a rare benign pigmented lesion found in phakomatoses [ 30 ]. The existing literature shows the role of NIR in delineating a hyperreflective lesion otherwise not clearly detectable on color fundus photography [ 31 , 32 ]. Gass described this alteration as a hamartomatous malformation involving the RPE, retina, retinal vasculature, and overlying vitreous [ 33 ].…”