Retinal astrocytic hamartoma is the most common ocular manifestation in tuberous sclerosis. Although astrocytic hamartomas are usually benign and stationary, there are occasionally circumstances when they are considered to be active. In this study, the authors report a case of self-limited visual impairment due to astrocytic hamartomas.
[Ophthalmic Surg Lasers Imaging Retina. 2019;50:737–739.]
Retinal astrocytic hamartoma is the most common ocular manifestation in tuberous sclerosis. The lesions are histologically described as a proliferation of well-differentiated astrocytes and glial cells that are located within nerve fiber layer of the retina.1–3 Although astrocytic hamartomas are usually benign and stationary, there are occasionally circumstances when they are considered to be active.1,4 There is no consensus for treatment when this rare presentation occurs.5 In this study, we report a case of self-limited visual impairment due to astrocytic hamartomas.
A 16-year-old Thai boy, working as a factory worker, came to the eye clinic at Rajavithi hospital with a complaint of progressive decrease in vision of his right eye (OD) for 2 weeks. He had no history of prior seizure episodes. His general physical examination was notable for multiple adenoma sebaceum and skin tags on his face and neck (Figures 1A and 1B). He also had an ash leaf lesion on his right arm and gingival fibroma (Figures 1C and 1D). He denied any history of familial hereditary diseases. Ocular examination showed impairment of vision OD with visual acuity (VA) of 20/50-1 without improvement with pinhole. Best-corrected VA of the left eye was 20/20. Intraocular pressure was normal in both eyes. Anterior segment examination of both eyes was unremarkable with normal pupils. Posterior segment examination of the right eye revealed an elevated white retinal lesion along the superotemporal arcade with surrounding telangiectasia. Exudates and an exudative retinal detachment extended to the macular area and involved the fovea. There was associated retinal edema, as well (Figures 2A and 3). The patient's left eye was normal.
Clinical photograph of (A) adenoma sebaceum, (B) skin tag, (C) ash leaf lesion, and (D) gingival fibroma.
Color fundus and optical coherence tomography images of the macula (A) at presentation, (B) 1-week follow-up, (C) 4-week follow-up, (D) 8-week follow-up, and (E) 10-month follow-up
Optical coherence tomography of macula shows macular edema (arrow head) with subretinal fluid involving the fovea originating from the superotemporal arcade astrocytic hamartoma lesion.
The patient had a brain MRI, which revealed subependymal nodules in his left ventricle (Figure 4). The results of other tests including echocardiography, chest X-ray, and blood work for kidney function were normal. He was diagnosed with tuberous sclerosis complex with central nervous system involvement and an associated serous retinal detachment OD. The white retinal lesion along the superotemporal arcade OD was diagnosed as a Type 1 astrocytic hamartoma.
T1 MRI of the brain shows prominent, slightly hyperintense lesions arising from outlines of the ventricles (arrow), which are consistent with subependymal nodules of tuberous sclerosis.
No medication was given for treatment. The patient was observed without any intervention. One week after presentation, his vision slightly improved to 20/40-1 OD. Additionally, both subretinal fluid (SRF) and intraretinal fluid slightly improved (Figure 2B). Four weeks after presentation, there was no change in VA OD and it remained at 20/40, but SRF beneath fovea was almost completely resolved (Figure 2C). After 8 weeks of follow-up, the patient's vision fully recovered to 20/20 OD and remained stable until the last follow-up 10 months later (Figures 2D and 2E). The serous retinal detachment and retinal edema completely resolved without any intervention. The size of astrocytic hamartoma along the superotemporal arcade remained unchanged; however, the internal translucency of lesion increased during the 10-month follow-up period (Figure 5). New lesions did not develop.
Optical coherence tomography images show the increase of internal translucency of the astrocytic hamartoma lesion on (A) at presentation and (B) after 10-month follow-up.
A symptomatic change in vision is an uncommon manifestation of retinal hamartomas secondary to tuberous sclerosis. Vitreous hemorrhage, SRF, subretinal hemorrhage, neovascular glaucoma, and mass effecting blocking the visual axis were previously reported as the causes of the visual compromise.5–11 A recent literature review from Munnel et al. suggests that spontaneous resolution of SRF following astrocytic hamartomas may occur within 4 weeks. There have been some reports describing a slow resorption of SRF along with choroidal neovascularization after laser photocoagulation of the lesions.5 Despite the recommendation of some authors that, in the presence of macular edema with increasing lipid exudate persisting for longer than 6 weeks in cases of astrocytic hamartomas, one should consider the need for treatment.5 Since we are not able to perform both fluorescein and indocyanine green angiography, other causes of SRF (for example, associated choroidal neovascularization and aggressive growth of retinal vessels) are difficult to determine. This patient reminds us that the presence of SRF can be patiently observed for up to 2 months without sequelae, and with spontaneous resolution of the macular edema and SRF in these cases with an excellent visual result. However, there is currently no evidence to confirm that these lesions will remain stable and that the vision will be maintained beyond 10 months. Further studies are still essentially needed.
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