Case presentation:
A 11-year-old female patient had no findings in both eyes in the slit-lamp biomicroscopic examination. The fundus examination revealed bilateral retinal tumors: six in the right eye (Figure 1A) and five in the left eye (Figure 1B). In the right eye, two lesions were located inferotemporal and two superotemporal, one inferonasal and one superior. The inferotemporal lesion was yellow, elevated, with central calcification and translucent area on the periphery, corresponding to the usual description of transitional hamartomas, also called type III astrocytic hamartomas. The other five lesions were at the arcade level and were yellow/gray-colored, translucent, with imprecise limits, without calcifications and with obscuration of retinal vasculature, corresponding to astrocytic type I hamartomas or flat hamartomas. The left eye presented all tumors at the arcade level: two superotemporal, one inferotemporal, two temporal in the periphery, all corresponding to type I astrocytic hamartomas. There was no retinal detachment, lesions affecting the optic disc or macula in both eyes.
OCT confirmed the diagnosis of TS, revealing dome-shaped hyperreflective masses in both eyes at different stages of evolution. In the right eye, three different spectra of lesions were observed, all of which had a gradual transition to the normal retina. Lesion 1, at an earlier stage, had a maximum thickness of 336 μm, with preserved inner nuclear and inner plexiform layers. Disorganization of the ganglion cell layer was observed (Figure 2A). Lesion 2 had a maximum thickness of 438 μm. A disruption in the normal structure of the retinal layers was observed, with disorganization of the ganglion cell, inner nuclear and inner plexiform layers. Outer plexiform layer was apparently preserved (Figure 2A). Lesion 3, of the transitional type, appeared as a hyperreflective dome-shaped proliferation with posterior shadow, with a maximum thickness of 1478 μm, presenting “moth-eaten” empty optical spaces, with an apparent complete rupture of the retinal anatomy (Figure 2B). In the left eye, Lesion 4 was observed with a maximum thickness of 342 μm, with preservation of the retinal anatomy, located at the level of the retinal nerve fiber layer (RNFL), making it possible to identify the ganglion cell layer, different from lesion 1 (Figure 2C).
The patient was seen 1 year after the OCT examination. The HARs remain stable and the patient maintains a visual acuity of 1.0 in both eyes. She will continue to follow up with her ophthalmologist.