Swept-source OCTA imaging in tuberous sclerosis-related retinal hamartomas

A 22-year-old male presented with complaints of vision loss in both eyes for the past 4 years. He had multiple brown- to red-colored, fibrous dome-shaped nodules around his nose, malar prominences [Fig. 1], and cervical region, suggestive of angiofibroma. His best-corrected visual acuity in the right eye was 20/60, and in the left eye was 20/20. Anterior segment evaluation was unremarkable. On fundus evaluation, both eyes showed multiple, yellowish, well-circumscribed, elevated lesions of varying sizes over the posterior pole and around the disc [Fig. 2]. Swept-source optical coherence tomography (SS-OCT) through the lesions showed well-circumscribed hyper-reflective thickening of the retinal nerve fiber layer (RNFL) with some optical backshadowing and vitreous condensation over the surface [Fig. 2]. SS-OCT angiography (SS-OCTA) revealed blood flow within the hyper-reflective thickening seen in RNFL on B-scan along with a high-flow network of vessels in the superficial capillary plexus [Fig. 3]. The abnormal vascular network appeared to arise from the adjacent retinal vessels. Juxtapapillary lesions also showed segmental whitening of the outer wall of arterioles, suggesting enveloping of normal vessels by the lesion.[1] Deep capillary plexus and choriocapillaris slab through the same lesion revealed a well-circumscribed dark lesion, possibly due to the masking effect [Fig. 3]. We made a diagnosis of tuberous sclerosis along with high myopia and multiple retinal hamartomas. However, no genetic testing was done.Figure 1: Angiofibroma over nose and malar prominenceFigure 2: Fundus photograph of (a) the right eye showing juxtapapillary RAH (black asterisk) and (b) the left eye showing multiple RAH. (c) SS-OCT of the right eye through the disc and (d) SS-OCT of the left eye through the lesion along the superotemporal arcade (white asterisk) showing abnormal vitreoretinal interface with RNFL thickening along with optical backshadowingFigure 3: (a) Fundus photograph showing retinal hamartoma (b) B-scan OCTA image through the lesion corresponding to superficial capillary plexus slab showing flow signals within the lesion. (c) SS-OCTA image through the superficial capillary plexus slab showing a high flow network of vessels (yellow asterisk). (d) The deep capillary plexus slab and (e) choriocapillaris slab at the lesion showing masking effect (white asterisk)Discussion Retinal astrocytic hamartoma is a benign retinal tumor that is composed of glial cells, predominantly astrocytes.[2] They typically develop in RNFL and usually have yellow-grey coloration with intrinsic blood vessels.[3] A report of OCTA in retinal capillary hamartoma has been recently published.[4] In the present case, using an SS-OCTA, we demonstrated the presence of an abnormal network of vessels within the retinal astrocytoma in a case of tuberous sclerosis. 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.