Oman Journal of Ophthalmology

: 2012  |  Volume : 5  |  Issue : 3  |  Page : 198--199

Retinal astrocytic hamartoma and Bourneville's disease

Mohammad Javed Ali, Santosh G Honavar, Milind N Naik 
 Ocular Oncology Service, L.V. Prasad Eye Institute, Hyderabad, Andhra Pradesh, India

Correspondence Address:
Mohammad Javed Ali
Oncology Service, L.V. Prasad Eye Institute, Road No 2, Banjara Hills, Hyderabad - 500 034, Andhra Pradesh

How to cite this article:
Ali MJ, Honavar SG, Naik MN. Retinal astrocytic hamartoma and Bourneville's disease.Oman J Ophthalmol 2012;5:198-199

How to cite this URL:
Ali MJ, Honavar SG, Naik MN. Retinal astrocytic hamartoma and Bourneville's disease. Oman J Ophthalmol [serial online] 2012 [cited 2022 Dec 7 ];5:198-199
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Full Text

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}{Figure 2}

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 4]a. There was also a small calcified lesion in the left temporal cerebral cortex suggestive of calcified cerebral astrocytoma [Figure 4]b. 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}{Figure 4}


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