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Double combined pigment epithelial and retinal hamartomas in a single eye

An optical coherence tomographic study

Vedantham, Vasumathy MS, FRCS; Rajagopal, Jyothsna MS

Author Information
Indian Journal of Ophthalmology: May–Jun 2007 - Volume 55 - Issue 3 - p 221-222
doi: 10.4103/0301-4738.31946
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Abstract

Combined retinal pigment epithelial (RPE) and retinal hamartomas are focal, usually solitary malformations composed of overgrowth of mature glial, vascular and pigmented cells.12 Any prior reports documenting more than one hamartoma in an eye were not found on a MEDLINE search. We report a rare case of twin hamartomas in the same eye and their unique optical coherence tomographic (OCT) findings.

Case Report

An eight-year-old female child was referred to the vitreoretina service of our tertiary eye care hospital for evaluation of asymptomatic pigmented lesions in the fundus of the right eye. Ocular examination revealed a best corrected visual acuity of 20/20 with normal anterior segments in both eyes. The fundus of the left eye was normal. Indirect ophthalmoscopy of the right eye revealed two lesions. The first lesion was a well-defined, slightly elevated, predominantly pigmented, peripapillary lesion about 0.89 mm in diameter [Fig. 1A]. Another grayish lesion measuring 0.56 x 7.29 mm in size was noted in the inferonasal mid-periphery with overlying tortuous vessels and collaterals [Fig. 1B]. The OCT ((STRATUS OCT™ Model 3000, Carl Zeiss Meditech technologies) of the peripapillary lesion demonstrated full thickness replacement of the retinal layers by a highly reflective material [Fig. 1C]. The OCT of the inferonasal tumor showed highly reflective material in both the inner and outer retinal layers at the level of the RPE [Fig. 1D].

Figure 1
Figure 1:
(A) Color fundus photograph of the right eye showing the disc and the peripapillary pigmented tumor (black arrow head), about 0.89 mm in diameter. The horizontal black line corresponds to the direction of the line scan of the OCT fig 1C, (B) Color fundus photograph of the right eye showing the relatively nonpigmented, grayish, inferonasal tumor measuring 0.56 x 7.29 mm in size (black asterisk). The vertical black line corresponds to the direction of the line scan of the OCT fig 1D. (C) Optical coherence tomogram of the right eye of the patient through the inferior neuroretinal rim of the optic disc and the adjacent part of the peripapillary tumor (temporal to nasal horizontal line scan, corresponding to the horizontal black line in fig 1A) showing a full thickness replacement of the retinal layers by highly reflective material (white arrow). ONH represents the neuroretinal rim of the optic nerve head. (D) Optical coherence tomogram of the right eye of the patient (inferior to superior vertical line scan, corresponding to the vertical black line in fig 1B) through the inferonasal tumor superiorly to the adjacent normal retinal tissue showing highly reflective material at the level of the inner retina and RPE (white arrows). There is preservation of the middle retinal layers. The adjacent normal superior retina is represented by a white arrowhead for comparison. Note that the RPE at the level of the tumor (inferior white arrow) appears thicker, presumably due to the hamartomatous tissue, than the RPE of the adjacent normal retina

On fundus fluorescein angiography, the peripapillary lesion demonstrated central hypofluorescence with peripheral staining [Fig. 2A]. In the late phases, the inferonasal lesion demonstrated leakage from the overlying tortuous vessels and collaterals [Fig. 2B]. Based on the above findings that were commensurate with the diagnostic criteria put forward by Gass,1 a diagnosis of twin combined hamartoma of the retina and RPE was made.

Figure 2
Figure 2:
(A) Fundus fluorescein angiogram (late venous phase) of the right eye showing blocked fluorescence with minimal staining at the edges of the peripapillary tumor (white arrowhead). (B) Fundus fluorescein angiogram of the right eye (late venous phase) showing leakage from the telangiectatic vessels overlying the inferonasal tumor

Discussion

Combined pigment epithelial and retinal hamartomas are usually solitary and unilateral. There is only a mention by Gass in his discussion on the paper by Schachat et al., of two combined hamartomas in one eye in a series of 35 eyes.3 However, we are unaware of any previous publications demonstrating the same (Medline search).

Shields et al. have reported disorganization of retinal architecture on OCT of combined hamartomas.4 Ting et al. have described hyper-reflective mass lesions with hyporeflective shadowing of the underlying tissues.5 The OCT findings of the tumors in our case do not concur with these previous reports and were also different from each other. The OCT findings of the inferonasal mass of highly reflective material in both the inner and outer retinal layers could point towards hamartomatous tissue at these levels, with a preservation of the middle retinal layers. The peripapillary lesion showed a full thickness replacement of the retinal layers by a highly reflective material, which could be melanin, considering its pigmented nature. This possibly reflects a predominance of pigmented cells in the peripapillary tumor whereas vascular (reflected by the telangiectasia) and probably glial elements in the inferonasal tumor.

In conclusion, this case report documents the fact that combined hamartomas may be multiple in the same eye with differing admixture of glial, vascular and pigmented cells in each tumor as demonstrated by OCT.

1. Gass JD. An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma Trans Am Ophthalmol Soc. 1973;71:175–85
2. Font RL, Moura RA, Shetlar DJ, Martinez JA, McPherson AR. Combined hamartoma of sensory retina and retinal pigment epithelium Retina. 1989;9:302–11
3. Schachat AP, Shields JA, Fine SL, Sanborn GE, Weingeist TA, Valenzuela RE, et al Combined hamartomas of the retina and retinal pigment epithelium Ophthalmology. 1984;91:1609–15
4. Shields CL, Materin MA, Shields JA. Review of optical coherence tomography for intraocular tumours Curr Opin Ophthalmol. 2005;16:141–54
5. Ting DT, Mccuen BW 2nd, Fekrat S. Combined hamartoma of the retina and retinal pigment epithelium Retina. 2002;22:98–101
Keywords:

Combined hamartomas; fluorescein angiography; optical coherence tomography

© 2007 Indian Journal of Ophthalmology | Published by Wolters Kluwer – Medknow