Astrocytic hamartomas are an abnormal proliferation of the macroglial astrocytic cells of the retinal nerve fiber layer and are considered benign lesions1. They can be located anywhere within the retina, however are often found at the optic nerve head2. Retinal astrocytic hamartomas are associated with a variety of diseases, but may also be singular and idiopathic. The age of onset plays a crucial role in differentiating the lesions and the course of treatment following diagnosis. Visual symptoms can range from being asymptomatic, to mild visual disturbances, to enucleation in the worst cases- which are associated with systemic conditions.
The appearance of astrocytic hamartomas are comparable to a variety of other lesions associated…show more content… Retinal astrocytic hamartomas typically appear in the first or second decade of life5. Their appearance is often white with a calcified appearance4 that can vary in size, with smaller lesions typically being less defined and a translucent white color5. Larger nodules may have more opaque coloring and white nodules in the inner retina; another common description for astrocytic hamartomas that are larger is “white mulberry” appearance5.
The age of onset and diseases associated allow prediction of transformation5. Larger lesions with a later onset typically remain stable, especially if the subject is over 25 years old5. It’s expected that if the lesion is recorded at a young age, it may go under small changes and enlarge5. Retinal astrocytic hamartomas can be a congenital or acquired finding. It is a common finding with a systemic diseases such as tuberous sclerosis, retinitis pigmentosa, or neurofibromatosis1. Systemic disorders will typically result in bilateral and multiple astrocytic hamartomas ,whereas idiopathic findings in a normal person will often result in unilateral and single lesions1,4.
Tuberous sclerosis is a congenital disorder with common findings of retinal astrocytic hamartomas that are found in 44% to 87% of patients6. It is an autosomal dominant