TNOA Journal of Ophthalmic Science and Research

CASE REPORT
Year
: 2019  |  Volume : 57  |  Issue : 1  |  Page : 82--83

Optical coherence tomography findings of a combined hamartoma of the retina and retinal pigment epithelium in a 7-year-old boy


Vaibhav Sethi1, Aditya Sethi1, Shenouda Girgis2, Sahebaan Sethi1, Reena Sethi1,  
1 Department of VitreoRetina, Arunodaya Deseret Eye Hospital, Gurugram, Haryana, India
2 Department of Opthalmology, University of New South Wales, Sydney, Australia

Correspondence Address:
Dr. Aditya Sethi
Department of Paediatric Ophthalmology, Arunodaya Deseret Eye Hospital, Plot No NH4, Sector 55, Off Golf Course Road, Gurugram, Haryana - 122 011
India

Abstract

We report a case of Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) in a 7 year old child, presenting to us in our single institutional practice. CHR-RPE is a rare and generally benign ocular hamartoma. CHR-RPE is generally sporadic but can occasionally occur as part of neurofibromatosis, nasopharyngeal angiofibroma, Gorlin or Poland syndrome. Vast majority of previously documented cases of CHR-RPE have been published prior to the advent of optical coherence tomography (OCT).Failure to distinguish it from serious malignancies such as choroidal melanoma or retinoblastoma has led to unnecessary enucleation in the past, thus the purpose of this case report is to analyze the optical coherence tomography (OCT) characteristics of CHR-RPE involving the macula.



How to cite this article:
Sethi V, Sethi A, Girgis S, Sethi S, Sethi R. Optical coherence tomography findings of a combined hamartoma of the retina and retinal pigment epithelium in a 7-year-old boy.TNOA J Ophthalmic Sci Res 2019;57:82-83


How to cite this URL:
Sethi V, Sethi A, Girgis S, Sethi S, Sethi R. Optical coherence tomography findings of a combined hamartoma of the retina and retinal pigment epithelium in a 7-year-old boy. TNOA J Ophthalmic Sci Res [serial online] 2019 [cited 2019 Sep 17 ];57:82-83
Available from: http://www.tnoajosr.com/text.asp?2019/57/1/82/259887


Full Text



 Introduction



Combined Hamartoma of the Retina and the retinal pigment epithelium (CHR-RPE) was first identified by Gass in 1973, and labeled an “unusual hamartoma of the pigment epithelium and retina.”[1] We present this case report to demonstrate many of the characteristic features of CHR-RPE on optical coherence tomography (OCT).

 Case Report



A 7-year-old boy presented with inward deviation in the left eye for 2 years. On the cover test, there was left eye convergent squint with best corrected visual acuity (BCVA) of 20/80 in the left eye. The right eye had BCVA of 20/20, anterior segment findings were unremarkable in both eyes. Fundus examination of the left eye [Figure 1] and [Figure 2] showed a white, fibrous band connecting the optic disc with the fovea, with macular pucker, vascular tortuosity, and hyperpigmentation at the macular region. Fundus examination of the right eye was normal. OCT [Figure 3] showed an epiretinal membrane with retinal striae and a thickened, disorganized retina. The inner retinal layers were hyper-reflective with mild optical shadowing, and outer retinal layers were hyporeflective. There were hyperreflective dots in the superficial and deep layers of the retina.{Figure 1}{Figure 2}{Figure 3}

 Discussion



CHR-RPE is an uncommon tumor of the retina. In 1973, Gass identified 7 patients with CHR-RPE and determined that it was difficult to distinguish between CHR-RPE and malignant tumours, such as choroidal melanomas and retinoblastomas.[1] On histopathological sections, it was found that there was proliferation of both the RPE and glial cells. This tended to alter the retinal architecture, causing hyperpigmentation, macular and papillary distortion, epiretinal membranes, and tortuous vessels.[1],[2],[3] There have been correlations between CHR-RPE and other systemic conditions, such as neurofibromatosis type II, branchio-oculo-facial syndrome and Gorlin Goltz syndrome.[2],[3] CHR-RPE has been more commonly found in children with comorbid visual conditions, namely, strabismus, leukocoria, and reduced visual acuity to <20/200.[4] Diagnosis of CHR-RPE is established using OCT, fluorescein angiography and ultrasound examination.[5]

 Conclusion



OCT is necessary for diagnosing CHR-RPE. Characteristic findings on OCT include a fibrous band connecting the optic disc with the fovea, an epiretinal membrane, vascular tortuosity, hyperpigmentation at the macular, a thickened and disorganized retina, hyperreflective foci in the retinal layers, and optical shadowing.

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.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Gass JD. An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma. Trans Am Ophthalmol Soc 1973;71:171-83.
2Shields CL, Thangappan A, Hartzell K, Valente P, Pirondini C, Shields JA, et al. Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients visual outcome based on macular versus extramacular tumor location. Ophthalmology 2008;115:2246-52000.
3Hamdi R, De Korvin H, Speeg-Schatz C, Szwarcberg J. Combined hamartoma of the retina and retinal pigment epithelium. Four case studies. J Fr Ophtalmol 2006;29:e6.
4Helbig H, Niederberger H. Presumed combined hamartoma of the retina and retinal pigment epithelium with preretinal neovascularization. Am J Ophthalmol 2003;136:1157-9.
5Theodossiadis PG, Panagiotidis DN, Baltatzis SG, Georgopoulos GT, Moschos MN. Combined hamartoma of the sensory retina and retinal pigment epithelium involving the optic disk associated with choroidal neovascularization. Retina 2001;21:267-70.