A 6-year-old boy suffering from epilepsy was referred for fundus evaluation from the department of pediatrics. The child was the third offspring, born by uneventful full-term vaginal delivery with normal developmental milestones. He had multiple nontender pigmented papules over his nose and cheeks [Fig. 1a]. Visual acuity was 6/6 in both eyes (OU). On ocular examination, OU anterior segment was normal with reactive pupils. Fundus evaluation of the left eye (OS) revealed multiple slightly elevated greyish white retinal lesions measuring about 4.5 mm × 3 mm and 1.5 mm × 1.5 mm in size with distinct margins in the nasal periphery [Fig. 1b]. Right eye fundus was unremarkable.
What will You do Next?
- Magnetic resonance imaging (MRI) brain
- Skin biopsy
- Optical coherence tomography (OCT) of lesions
Magnetic resonance imaging (MRI) brain revealed subcortical hyperintensities in bilateral frontal, parietal, and temporal region suggestive of cortical tubers and subependymal nodules [Fig. 1c]. The findings were characteristic of tuberous sclerosis complex (TSC). Left eye Optical Coherence Tomography (OCT) showed hyperreflectivity involving inner retinal layers consistent with astrocytomas [Fig. 1d]. The small erythematous papules on the central face and nasolabial folds were confirmed as angiofibromas suggestive of adenoma sebaceum. Thus, a constellation of epilepsy, adenoma sebaceum, retinal astrocytic hamartomas, and cortical tubers on the MRI brain is consistent with TSC.
Tuberous Sclerosis Complex.
TSC is a neuro-oculo-cutaneous syndrome (phakomatoes) with sporadic (60%) and autosomal dominant inheritance (40%). The most common ophthalmologic feature is retinal astrocytic hamartomas which are commonly bilateral (50%). They may be calcified (glistening yellow spherules) or non-calcified (small grey-yellow mass). Majority are posteriorly located and are stable. Aggressive cases can progress to vitreous haemorrhage, exudative retinal detachment and neovascular glaucoma. Other ocular associations are iris, ciliary body, optic nerve hamartomas and iris coloboma. Systemic associations include hypopigmented cutaneous macules (ash leaf sign), facial angiofibromas, intracranial astrocytomas, cardiac rhabdomyoma and, renal myolipoma. Our case showed asymptomatic peripheral noncalcified astrocytomas and child was advised periodic fundoscopy, counseling, and to continue antiepileptics as advised by neurologist.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the guardian has given his/her/their consent for his/her/their child's images and other clinical information to be reported in the journal. They understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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Fairooz P. Manjandavida, Bangalore, India
Carol L. Shields, Philadelphia, USA