Spectral-domain optical coherence tomography of combined hamartoma of the retina and retinal pigment epithelium in neurofibromatosis

Abstract

A 5-year-old girl was diagnosed with neurofibromatosis type 2 (NF-2) due to multiple neurofibromas, cafe-au-lait spots, and schwannomas of the brain. During ophthalmologic evaluation, a posterior subcapsular cataract and a gray-green colored subretinal lesion were found in right eye. Fluorescein angiography (FA) revealed a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). At age 9, she underwent cataract surgery. At this time FA and spectral-domain optical coherence tomography (SD-OCT) were taken. The SD-OCT showed an elevated hyperreflective mass in the retina with prominent attenuation of the inner and outer retina, but minimal attenuation in the photoreceptor layers. The underlying retina appeared to be disorganized and thick (791 µm). This is the first case report of SD-OCT imaging of a CHRRPE associated with NF-2 in a pediatric patient. By using SD-OCT in this patient, we could obtain detailed tumor characteristics, and SD-OCT may be helpful in the diagnosis and management of CHRRPE.

Keywords: Combined hamartoma of retina and retinal pigment epithelium; Neurofibromatoses; Spectral-domain optical coherence tomography.

Fig. 1

At age 9, (A) fundus photography of the right eye reveals a moderately pigmented and elevated lesion at the inferotemporal vascular arcade, involving the macula. (B) Fundus fluorescein angiography of the right eye demonstrates some areas of pinpoint hyperfluorescence. (C) Late phase of fluorescein angiography demonstrates mild retinal vascular leakage, and shows no significant progression compared with the previous examination.

Fig. 2

Spectral-domain optical coherence tomography reveals an elevated hyperreflective mass in the retina with mild attenuation of the retinal pigment epithelium and photoreceptor inner segment/outer segment junction. Prominent thickening and attenuation of the inner retina is also noted (A,B). The arrow in (A) represents the hyperreflective epiretinal membrane.