Title : The usual suspects: Bilateral astrocytic hamartomas in tuberous sclerosis
Abstract:
The objective of this clinical case report is to stress upon the importance of careful clinical examination in patients of Tuberous sclerosis. We present three cases out of which two had very prominent retinal hamartomas and one patient had inconspicuous small hamartomas in the peripheral retina. Hamartomas are usually referred to non malignant growths that are composed of normal cells proliferating in aberrant locations. Various hamartomas are seen in Tuberous sclerosis, a rare multisystem genetic disorder that commonly involves the skin, brain,lungs, heart, kidneys and the eyes. It results from the mutation of the TSC1 or the TSC2 genes (tumor suppressor genes) that may occur sporadically or that may be inherited in an autosomal dominant pattern. These hamartomas are usually asymptomatic and not detected until they start presenting with either breathing difficulties or Tuberous Sclerosis associated neuropsychiatric disorders (TANDs). Angiomyolipomas and rhabdomyomas can also occur in tuberous sclerosis and should be extensively evaluated as they may pose risks, such as rupture and haemorrhages which can be potentially fatal. The purpose of our case series is thus, to familiarise the various presentations that a patient may be brought in with this disease and how we as ophthalmologists can help with a high index of suspicion. The betterment of the patient always lies in a multidisciplinary approach, and that is what we advocate as well.
Audience take - away:
This case report can help ophthalmologists learn the ocular features of tuberous sclerosis and how commonly it can be missed out during a routine examination. Special emphasis should be made on thorough fundus examination of these seemingly benign lesions as they form one of the major criteria to clinically make a diagnosis of tuberous sclerosis.
In routine practice, this can help ophthalmologists learn how astrocytic hamartomas appear on fundus examination, as well as their characteristics seen through Spectral- Domain Optical Coherence Tomography (OCT) as well as OCT angiography.
