Purpose: Retinal astrocytic hamartoma is a benign glial tumor found in the nerve fiber layer, and it is most commonly reported as a solitary lesion. Multiple or bilateral lesions may be indicative of systemic disease, such as tuberous sclerosis complex or neurofibromatosis 1. We present three unique cases of multifocal and bilateral retinal astrocytic hamartomas in patients with suspected tuberous sclerosis complex. The typical features, diagnosis, management, and systemic implications of these retinal lesions are discussed.
Methods: Consecutive case series at a university-based ophthalmology clinic.
Results: The age of the patients ranged from 9 years to 27 years. The patients came from different ethnic backgrounds and had no known family history of tuberous sclerosis complex or neurofibromatosis. Two of the three patients had asthma, along with brain and kidney tumors. Two of the three patients had a seizure disorder, and one of the three patients had mental retardation. Only one patient presented with an ocular complaint of decreased vision, as a result of a presumed unrelated process. All patients had bilateral and multifocal astrocytic hamartomas.
Conclusion: Multifocal retinal astrocytic hamartomas are unique and can be the first manifestation of a systemic disease such as tuberous sclerosis complex or neurofibromatosis 1. Prompt referral for imaging and workup with the appropriate medical subspecialty can help prevent or delay the morbidity related to these systemic conditions.