Large symptomatic retinal astrocytic hamartoma in a child with tuberous sclerosis complex

A 10-year-old boy presented with painless decrease in vision in his right eye since three months. Visual acuity was hand motions close to face in the right eye. Slit lamp examination showed anterior chamber flare and posterior synechiae (Fig.1a). The lens was clear and there was no neovascularisation of the iris. Intraocular pressure (IOP) was 14 mmHg by applanation tonometry. Fundus examination revealed a large yellowish-white elevated mass lesion located posteriorly, with surface irregularity and hemorrhages (Fig.1b). There were no visible calcifications or retinal detachment. The left eye was unremarkable with an unaided visual acuity of 20/20. Systemic examination showed several flat, depigmented skin lesions measuring >5 mm; these hypopigmented macules were noted on the right cheek (Fig.1c) and lower back (Fig.1d). The parents revealed that the child was of average intelligence. There was no history of seizures. There was no relevant family history. Ultrasonography revealed a large mass in the peripapllary region occupying almost half of the vitreous cavity with variable internal reflectivity. It was 12.2 mm high and measured 9.2 mm at its base. There were no areas of calcification (Fig.1e). A computed tomography (CT) scan showed nodular soft tissue attenuation at the right optic nerve head without any calcification (Fig.1f). There was no extrascleral extension on CT or ultrasound.

Fig. 1.

(a) Slit lamp photograph of the child's right eye showing anterior chamber flare and posterior synechiae. (b) Fundus photograph of the right eye showing a large yellowish-white elevated mass with an irregular surface and hemorrhages. (c) Hypopigmented macule present on the right cheek and lower back (d). (e) Ultrasound of the right eye demonstrated a large peripapillary mass 12.2 mm high and 9.2 mm basal diameter, with variable internal reflectivity extending into the vitreous cavity. (f) Computed tomography (CT) scan showed nodular soft tissue attenuation at the right optic nerve head. No calcification was picked up. (g) CT scan of the head showing multiple nodulo-calcific lesions in the subependymal regions of bilateral lateral ventricles.

The child was referred to an internist for evaluation. A CT scan of the head revealed multiple nodulo-calcific lesions in the subependymal regions of bilateral lateral ventricles (Fig.1g). A clinical diagnosis of tuberous sclerosis complex (TSC) with a retinal astrocytic hamartoma (RAH) in the right eye was made. The child’s parents refused enucleation of the right eye. The clinical picture remained unchanged till one year of follow up.

Comment

RAH associated with TSC are classically benign, stationary lesions with little or no tendency to grow, that are often picked up on routine examination.1, 2 Very rarely, they can show progressive enlargement accompanied by exudative retinal detachment and neovascular glaucoma. This aggressive behaviour resulting in a painful blind eye may necessitate enucleation.3, 4

Conflict of interest

The authors declared that there is no conflict of interest.