Retinal astrocytic hamartoma

Abstract

Background: Retinal astrocytic hamartomas are glial tumors of the retinal nerve fiber layer that arise from retinal astrocytes. Classically they appear as a cream-white, well-circumscribed, elevated lesion that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis (TS) but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation.

Case reports: Two cases of solitary retinal astrocytic hamartomas without systemic complications discovered at routine examination are presented. Both patients were found to have a raised, multilobulated retinal lesion consistent with the appearance of a retinal astrocytic hamartoma. In both cases, the patients had no personal or family history of seizures or any signs of unusual dermatologic lesions. B-scan ultrasonography, fluorescein angiography, and magnetic resonance imaging (MRI) were performed as necessary.

Conclusion: A retinal astrocytic hamartoma is typically associated with TS but can also present as a spontaneous, idiopathic lesion. Prompt referral to rule out TS or other systemic associations, particularly in young children, is important. Neuroimaging, along with other diagnostic tests, may ensure the proper management and rule out need for further evaluation. Spontaneous lesions without systemic association can initially be monitored closely to rule out possible progression. Once stability has been established, annual follow-up with a primary care eye practitioner is appropriate.