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 Table of Contents  
Year : 2018  |  Volume : 56  |  Issue : 4  |  Page : 249-250

Foveal simple hamartoma of retinal pigment epithelium

1 Department of Vitreo Retina, Aravind Eye Hospital, Chennai, Tamil Nadu, India
2 Department of Vitreo Retina, Aravind Eye Hospital, Puducherry, India

Date of Web Publication19-Feb-2019

Correspondence Address:
Dr. Prabu Baskaran
Aravind Eye Hospital, 10, Noombal, Poonamallee High Road, Chennai - 600 077, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/tjosr.tjosr_90_18

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Congenital anomalies of retinal pigment epithelium (RPE) are rare entities among which simple hamartoma of RPE is extremely rare. Majority of reported cases of congenital simple hamartoma were extrafoveal and patients were asymptomatic. These lesions may pose diagnostic challenge if not aware. Here, we present two cases of simple congenital hamartoma involving fovea presenting with diminished vision and also discuss the review of literature in brief.

Keywords: Congenital, retinal pigment epithelium, retinal pigment epithelium hamartoma

How to cite this article:
Baskaran P, Chokahalli N, Ganne P. Foveal simple hamartoma of retinal pigment epithelium. TNOA J Ophthalmic Sci Res 2018;56:249-50

How to cite this URL:
Baskaran P, Chokahalli N, Ganne P. Foveal simple hamartoma of retinal pigment epithelium. TNOA J Ophthalmic Sci Res [serial online] 2018 [cited 2022 Dec 7];56:249-50. Available from: https://www.tnoajosr.com/text.asp?2018/56/4/249/252499

  Introduction Top

Congenital simple hamartoma of the retinal pigment epithelium (RPE) was originally described by Laqua in 1981 as a rare, benign tumor of RPE that occurs in the macula without involving the surrounding[1] retina, RPE, and choroid. Most commonly, they occur in paracentral or perifoveal area; hence, majority of patients are asymptomatic.[2],[3] Foveal location is extremely rare and associated with poor vision. Here, we describe two cases of hamartoma located at the center of fovea with brief review of literature.

  Case Reports Top

Case 1

A 65-year-old female presented to us with diminished vision OD for 3 years. Ocular examination showed senile cataract with best-corrected visual acuity (BCVA) 6/36, N18 (Snellen acuity). Fundus OD showed a large well-circumscribed, flat, dark-pigmented lesion at the fovea measuring approximately one disc diameter with no associated changes in surrounding retina, RPE, or choroid. There was neither associated exudation nor hemorrhage surrounding the lesion. Optical coherence tomography (OCT) showed sloppy foveal contour with prominent inner retinal layer reflectivity and complete optical backshadowing behind it. The surrounding retina and RPE layers were normal [Figure 1]a, [Figure 1]b, [Figure 1]c.
Figure 1: Composite picture showing color fundus photograph of right eye with well-defined dark pigmented lesion at fovea (a), hypoautofluorescence of corresponding area (b) and optical coherence tomography showing backshadowing with adjacent normal architecture of retinal layers (c)

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Case 2

A 52-year-old female, with 6/9 BCVA OU (Snellen acuity) during her glaucoma evaluation for narrow angles, was noted to have a small well-circumscribed, dark-pigmented circular area in the fovea measuring one-fifth of the disc diameter with normal appearing adjacent retinal vasculature and RPE. OCT with raster lines passing through the lesion confirmed inner retinal hyperreflectivity with complete backshadowing typical of simple RPE hamartoma [Figure 2]a, [Figure 2]b, [Figure 2]c.
Figure 2: Left eye of another case shows relatively small size pigmented lesion at fovea (a) with corresponding area of hypoautofluorescence (b) and optical coherence tomography showing inner layer reflectivity with complete backshadowing (c)

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In both the cases, there was no dilated feeding arteriole or draining venule. Over 3 months of observation, lesions remained unchanged and also the BC.

  Discussion Top

First detailed discussion of RPE tumors was made by Gass,[2] where he observed simple RPE hamartomas as a focal nodular jet black lesions involving full-thickness retina, mainly located in perifoveal area. Most often, patients were asymptomatic and detected incidentally during examination. Fovea location is very rare and may cause defective vision. Gass in his collection of 10 cases observed only one case of foveal located RPE hamartoma with BCVA of 6/60 presenting as exotropia. Shukla et al.[4] noted a large foveal hamartoma with BCVA 10/200. The poor vision was attributed to the location of the lesion along with surrounding structural distortion of the macula.

In our first case, the foveal contour was well maintained except for hyperreflectivity involving entire foveal slope. The poor vision was solely attributed to the lesion with possible amblyopia as it was presumed congenital. Shields et al.,[3] in their series of five cases, reported two cases having decreased vision owing to proximity of lesion causing foveal traction. In our second case, the patient was asymptomatic possibly due to the smaller size of the lesion.

Of all the cases so far reported in the literature,[4],[5],[6] only two had foveal location. We observed two such cases of fovea located hamartomas with difference in size of lesion and correspondingly the severity of visual loss. These lesions are presumed to be congenital, and hence, amblyopia could contribute to vision loss as observed in previous reports.[2] The differential diagnosis includes macular telangiectasia, combined hamartoma of RPE and retina, old subretinal blood, scarred foveal choroidal neovascular membrane, and intraocular foreign body. All above-said conditions have associated clinical and imaging features posing no difficulty in differentiation.

  Conclusion Top

We have observed two cases of simple hamartoma of RPE involving center of the fovea. The vision in both cases is poor owing to its location, area of involvement, and surrounding foveal traction.

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

Laqua H. Tumors and tumor-like lesions of the retinal pigment epithelium. Ophthalmologica 1981;183:34-8.  Back to cited text no. 1
Gass JD. Focal congenital anomalies of the retinal pigment epithelium. Eye (Lond) 1989;3(Pt 1):1-8.  Back to cited text no. 2
Shields CL, Shields JA, Marr BP, Sperber DE, Gass JD. Congenital simple hamartoma of the retinal pigment epithelium: A study of five cases. Ophthalmology 2003;110:1005-11.  Back to cited text no. 3
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. 4
López JM, Guerrero P. Congenital simple hamartoma of the retinal pigment epithelium: Optical coherence tomography and angiography features. Retina 2006;26:704-6.  Back to cited text no. 5
Thorell MR, Kniggendorf VF, Arana LA, Grandinetti AA. Congenital simple hamartoma of the retinal pigment epithelium: A case report. Arq Bras Oftalmol 2014;77:114-5.  Back to cited text no. 6


  [Figure 1], [Figure 2]


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