Retinal astrocytic hamartoma and Bourneville's disease

Retinal astrocytic hamartoma is a benign retinal tumor that is composed of glial cells, predominantly astrocytes.[1,2] It is frequently associated with tuberous sclerosis complex (TSC) or Bourneville's disease, a rare genetic syndrome. More than half of these tumors go undetected.[3,4] Other ophthalmic manifestations include hamartomas of the iris and ciliary body, giant retinal astrocytomas with exudative retinal detachment and neovascular glaucoma.[5] Roach et al.[4] comprehensively presented the ten major and nine minor criteria for the diagnosis of tuberous sclerosis complex. We present a case of a 19-year-old female who was referred to us with a diagnosis of intraocular retinal tumor, which was detected on a routine eye examination. The patient was asymptomatic. There was, however, a past history of recurrent epilepsy at the age of 6 years that completely resolved after a full course of antiepileptics. There was no history of any developmental delays.

On examination, her best corrected visual acuity was 20/20, N6. The anterior segment in both eyes was within normal limits. Fundus in the right eye showed a 4×3×1 mm retinal lesion, about 3 disc diameters from the optic disc along the inferotemporal arcade. The lesion had a central nodule measuring 2×1.5 mm consisting of glistening yellowish spherules of calcification that was surrounded circumferentially by a grayish transparent sessile and fairly flat suggesting retinal gliosis [Figure 1]. There was obscuration of the overlying retinal vessels and the surrounding vessels showed mild straightening suggestive of mild traction. Left eye fundus was normal. Facial examination revealed the presence of subtle but characteristic cutaneous angiofibromas or adenoma sebaceum [Figure 2]. However, there were no ash leaf spots, shagreen patches, or periungual fibromas.

Figure 1.

Fundus photograph of the right eye showing retinal astrocytic hamartoma with central calcification

Figure 2.

Numerous periocular angiofibromas (adenoma sebaceum)

The lesion showed autofluorescence [Figure 3]. Ultrasound B-scan showed a retinal mass lesion measuring 4×3×1.7 mm with a highly reflective central spot with acoustic shadowing suggestive of calcification. CT scan of the brain and orbits showed a calcified lesion in the right eye posterior pole corroborating with the clinical and ultrasonographic features [Figure 4a]. There was also a small calcified lesion in the left temporal cerebral cortex suggestive of calcified cerebral astrocytoma [Figure 4b]. There was no evidence of any subependymal nodule and the ventricles were normal. Systemic examination was normal. A diagnosis of retinal astrocytic hamartoma with tuberous sclerosis complex was made since three major criteria for diagnosis were fulfilled. The patient is on regular follow-up.

Figure 3.

Fundus photograph showing autofluorescence. This is quite typical of the calcific variant as in this case

Figure 4.

(a) CT scan orbits, axial cuts showing calcified plaque in the right eye, (b) CT scan brain, axial cuts showing a calcified cerebral astrocytoma