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| CLINICAL IMAGE |
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| Year : 2023 | Volume
: 16
| Issue : 1 | Page : 189-191 |
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Juxtapapillary combined hamartoma of the retina and retinal pigment epithelium
Tarannum Mansoori
Department of Glaucoma, Anand Eye Institute, Hyderabad, Telangana, India
| Date of Submission | 07-Mar-2022 |
| Date of Decision | 25-Jun-2022 |
| Date of Acceptance | 14-Nov-2022 |
| Date of Web Publication | 21-Feb-2023 |
Correspondence Address:
Tarannum Mansoori
Department of Glaucoma, Anand Eye Institute, Hyderabad - 500 007, Telangana
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ojo.ojo_60_22
 Abstract | | |
Keywords: Combined hamartoma of the retina and retinal pigment epithelium, optical coherence tomography OCT, Angio OCT
How to cite this article:
Mansoori T. Juxtapapillary combined hamartoma of the retina and retinal pigment epithelium. Oman J Ophthalmol 2023;16:189-91 |
Combined hamartoma of the retina and retinal pigment epithelium (CHR-RPE) is a rare, usually unilateral, solitary, and hamartomatous malformation causing hyperplasia of RPE, glial cells, and blood vessels.[1],[2],[3] In juxtapapillary lesions, there may be a proliferation of the RPE into the optic disc.
A 30-year-old female was referred for the evaluation of papilledema in the right eye (RE).
On examination, her best-corrected visual acuity was 20/100 in the RE and 20/20 in the left eye (LE). The anterior segment was normal in both eyes. Fundus examination was normal in the LE. RE fundus examination showed a clear media, grayish-white, elevated, ill-defined lesion, overlying the optic disc and peripapillary area, approximately 4 disc diameter (DD) in size with hyperpigmentation at the temporal border, irregular surface with fibrotic membrane, 1.5 DD yellowish area temporally with overlying telangiectasia, epiretinal membrane (ERM), and retinal striae extending toward the macula and mild tortuosity of the retinal vessels [Figure 1]. Optical coherence tomography (OCT) of the RE disc showed an elevated, hyperreflective mass and a tractional band intertwining into the disc substance [Figure 2]. Peripapillary OCT showed the retinal thickening, disorganized inner retinal architecture, and ERM causing “mini-peaks” of vitreoretinal traction [Figure 3]. There was no involvement of the RPE and underlying choroid. RE angio OCT enface image showed a hyperreflective membrane overlying the optic disc [Figure 4], ERM, and retinal folds extending onto the macular area [Figure 5]. | Figure 1: A color fundus photograph of the right eye shows a grayish-white elevated lesion, overlying the disc and macula with a hyperpigmented temporal margin. A yellowish-white fibrotic thickening is present over the surface of the lesion
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 | Figure 2: Right eye optical coherence tomography vertical scan through the disc shows an elevated, hyperreflective mass (arrow), and the tractional bands (asterisk)
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 | Figure 3: Right eye optical coherence tomography of the peripapillary area shows the retinal thickening, disorganized inner retinal architecture, and preretinal membrane (arrowhead) causing “mini-peaks” of vitreoretinal traction (arrow)
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 | Figure 4: Angio optical coherence tomography enface image of the right eye disc shows a hyperreflective membrane overlying the optic disc
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 | Figure 5: Angio optical coherence tomography enface image of the right eye peripapillary area shows the epiretinal membrane, telangiectasia (red arrow), and retinal folds (white arrow) extending onto the macular area
Click here to view |
A diagnosis of RE juxtapapillary CHR-RPE was made.
CHR-RPE was first described by Gass[1] as (1) a mildly elevated, black, or charcoal gray mass involving RPE, retina, and overlying vitreous; (2) extending in a fan-like projection toward the periphery; (3) fusing indiscriminately with surrounding RPE; (4) encapsulated by thickened and dense gray-white retinal and preretinal tissue; (5) demonstrating compression and contraction of the inner surface; (6) absence of RPE or choroidal atrophy at the margin; (7) absence of retinal detachment, hemorrhage, exudation, and vitreous inflammation.
The CHR-RPE most often occurs on or close to the optic disc in 76%, in the macula in 17%, and in the peripheral retina in only 7% of the patient. It appears as a gray sessile lesion with stretched or tortuous vessels that are partly obscured by white fibroglial tissue.[2] The specific retinal layers involved can differ between the patients and classification has been proposed to describe these tumors.[4]
CHR-RPE is a typical mildly elevated lesion, with the pigmentation limited to the margins of the lesion, vascular tortuosity, and ERM. Its identification is important, as it can be mistaken for astrocytic hamartoma, retinoblastoma, melanocytoma, or malignant melanoma. Some lesions may show an increase in opacification of the glial component, atrophic changes in the surrounding RPE, choroidal neovascularization, and retinal and vitreous hemorrhage.[3] Its pathogenesis and etiology are uncertain and gradual vision loss, more often in macular (60%) than extramacular (13%) lesions can occur.[3]
OCT is a useful adjunct to visualize the vitreoretinal interface and could influence the surgical decision, as in this case, where despite macula and peripapillary involvement, ERM peeling was not advised, as ERM was intrinsically woven into the lesion.
To conclude, CHR-RPE can simulate intraocular tumors and it is essential to distinguish it from these conditions to avoid unnecessary enucleation.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.
Acknowlegement
I thank Dr Brijesha for her feedback on this case.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | |  |
| 1. | Gass JD. An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma. Trans Am Ophthalmol Soc 1973;71:171-83.  |
| 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. | Shields CL, Thangappan A, Hartzell K, Valente P, Pirondini C, Shields JA. Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients visual outcome based on macular versus extramacular tumor location. Ophthalmology 2008;115:2246-52.e3. |
| 4. | Dedania VS, Ozgonul C, Zacks DN, Besirli CG. Novel classification system for combined hamartoma of the retina and retinal pigment epithelium. Retina 2018;38:12-9. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
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