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Year : 2022  |  Volume : 2  |  Issue : 1  |  Page : 168-169

Bilateral multifocal congenital simple hamartoma of the retinal pigment epithelium

Department of Retina and Vitreous, Aravind Eye Hospital, Thavalakuppam, Pondicherry, India

Date of Submission10-Jul-2021
Date of Acceptance28-Aug-2021
Date of Web Publication07-Jan-2022

Correspondence Address:
Dr. Roshni Mohan
Department of Retina and Vitreous, Aravind Eye Hospital, Thavalakuppam, Pondicherry - 605 007
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1858_21

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Congenital simple hamartomas of the RPE are benign, solitary, stationary, well-demarcated lesions seen in the retina. They are usually characterized by their pigmentation, superficial or deep involvement of the retinal layers and abrupt margins, and convex tenting of the surface. They have been recently studied extensively using SD-OCT and OCT-angiography. We have described a case of bilateral multiple congenital simple hamartomas of the RPE and their imaging characteristics.

Keywords: Hamartoma, pigmentation, RPE, SD-OCT

How to cite this article:
Mohan R, Yadav D, Behera SP. Bilateral multifocal congenital simple hamartoma of the retinal pigment epithelium. Indian J Ophthalmol Case Rep 2022;2:168-9

How to cite this URL:
Mohan R, Yadav D, Behera SP. Bilateral multifocal congenital simple hamartoma of the retinal pigment epithelium. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 Aug 14];2:168-9. Available from: https://www.ijoreports.in/text.asp?2022/2/1/168/334918

Tumors of the retinal pigment epithelium (RPE) are classified as isolated (congenital simple) hamartoma of the RPE, combined retinal and RPE hamartoma, congenital hypertrophy of the RPE, grouped pigmentation, adenoma, and adenocarcinoma of the RPE. Congenital simple hamartoma of the retinal pigment epithelia (CSHRPE) is a rare entity, characterized by solid, round, jet-black pigmented lesion within the macula and usually unilateral. Very rarely, bilateral unifocal hamartoma cases have been reported in the literature.[1] Herein, we report an unusual case of bilateral multiple simple hamartoma of the RPE.

  Case Report Top

A 55-year-old male presented for routine eye checkup. He was asymptomatic with no history of any ocular or systemic tumor and had no comorbidities. His best-corrected visual acuity was 20/20 OU. Slit-lamp examination of the anterior segment was within normal limits, with intraocular pressure being 12 mm Hg in both eyes. Fundus examination OU revealed bilateral, multiple, nodular, variably shaped, heavily pigmented well-circumscribed retinal lesions at the posterior pole [Figure 1] and [Figure 2]. Spectral-domain optical coherence tomography (SD-OCT) showed lesions with clear-cut margins at the level of the inner retina, with high surface reflectivity and back shadowing of deeper structures [Figure 1] and [Figure 2]. These findings were diagnostic of CSHRPE and helped in excluding other pathologies, including choroidal nevus, RPE hyperplasia, or melanoma,[2],[3] as lesions of latter entities are located mainly at the outer layers of the retina. There was no associated hemorrhage, macular edema, retinal exudation, or subretinal fluid. The patient is being followed up.
Figure 1: (a) Fundus photograph OD showing three discrete densely pigmented lesions (white arrowhead) seen at the macula. (b) Inset multicolor image showing the orangish-red color of these lesions. (c and d) SD-OCT showing lesions having marked surface reflectivity with deep complete backshadowing and convex tenting (asterisk)

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Figure 2: (a) Fundus photograph OS showing five irregular heavily pigmented lesions (white arrowhead) at the macula. (b) Inset multicolor image showing the orangish-red color of these lesions. (c and d) SD-OCT through the lesion seen having intense surface reflectivity and dense backshadowing

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  Discussion Top

RPE hamartomas are extremely infrequent, asymptomatic, benign lesions with a very characteristic clinical appearance. They are most commonly unilateral and stationary, without growth. Congenital simple hamartoma of the RPE, isolated hamartoma of the RPE, and primary RPE hyperplasia are also terms used to describe this lesion. Gass initially classified them as retinal pigment epithelial hamartoma or congenital pigment epithelial adenoma and later described three patterns of involvement: superficial involvement of the retina, full-thickness retinal involvement with preretinal extension, and full-thickness retinal involvement with preretinal extension and intrinsic vascularization.[4] Associated features of a tumor involving the full thickness of the retina may include minimally dilated retinal feeding vessels, retinal traction or exudation, and pigmented vitreous cells.

It has been hypothesized that the tumor might have been formed due to the migration of RPE cells to the retinal surface during embryogenesis. These ectopic RPE progenitor cells lying in the retinal tissue may not differentiate into mature RPE cells due to lack of local homeostatic factors. Hence, they undergo hyperplasia and fibrosis depending on the cell rest and rest within the neural tissue. Depending on the amount of cell rest, they may be classified as superficial, full-thickness involvement of the retinal tissue. Thus, it has been hypothesized that congenital simple hamartoma of RPE may be ectopic differentiation of RPE cells within the neural retina, and further arrest of development, along with hyperplasia and fibrosis, result in an intraretinal mass lesion depending on the cell rest.

The largest case series has been reported by Shields et al., which included clinical characteristics of five cases, all of which were unilateral.[4] Recently, studies using OCT have improved our understanding of this rare tumor, which is characterized by an irregular surface and abrupt borders, high optical reflectivity, and complete shadowing of underlying structures. The findings of full-thickness retinal replacement with intense surface reflectivity and complete deep shadowing of underlying structures are characteristic of a pigmented tumor. A normal adjacent choriocapillaris helps in excluding a nevus or melanoma.[5] The tumor margins are abrupt with minimal convex tenting of the surface. Intratumoral and peritumoral vascularization can be appreciated with fundus fluorescein angiography and more recently by OCT-angiography.[5],[6] The latter imaging modalities can provide details regarding the type of vascular pattern in such lesions. Vascularity, if present, along with the clinical features, and OCT remain diagnostic of this rare entity and also help in ruling out other differential diagnoses, such as various pigmented lesions (e.g., congenital hypertrophy of the RPE, intraretinal foreign body, adenoma, adenocarcinoma of the RPE, combined hamartoma of retina, and RPE). Color, location, retinal vascular involvement, imaging characteristics, and associated visual disturbances help us to differentiate these lesions.

  Conclusion Top

We have reported this rare clinical entity as our case had a bilateral and multifocal presentation (superficial type), which has not been reported previously. OCT findings such as high surface reflectivity, tenting, and deep complete shadowing are consistent with those of previously reported cases.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Panagopoulos A, Chalioulias K, Murray AT. Bilateral congenital hamartomas of the retinal pigment epithelium in a patient with Down's syndrome. Eye (Lond) 2008;22:735-6.  Back to cited text no. 1
Gass JD. Focal congenital anomalies of the retinal pigment epithelium. Eye (Lond) 1989;3:1-18.  Back to cited text no. 2
Shields CL, Materin MA, Karatza EC, Shields JA. Optical coherence tomography of congenital simple hamartoma of the retinal pigment epithelium. Retina 2004;24:327-8.  Back to cited text no. 3
Shields CL, Shields JA, Marr BP, Sperber DE, Gass JDM. Congenital simple hamartoma of the retinal pigment epithelium: A study of five cases. Ophthalmology 2003;110:1005-11.  Back to cited text no. 4
Shukla D, Ambatkar S, Jethani J, Kim R. Optical coherence tomography in presumed congenital simple hamartoma of retinal pigment epithelium. Am J Ophthalmol 2005;139:945-7.  Back to cited text no. 5
Zola M, Ambresin A, Zografos L. Optical coherence tomography angiography imaging of a congenital simple hamartoma of the retinal pigment epithelium. Retin Cases Brief Rep 2021;15:289-93.  Back to cited text no. 6


  [Figure 1], [Figure 2]


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