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    Can You Guess April's Mystery Condition?

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    Make your diagnosis in the comments, and look for the answer in next month’s Blink.

    Fundus imaging (Optos) of a 79-year-old woman’s left eye.

     

    Last Month’s Blink

    Retinal Astrocytic Hamartoma and Tuberous Sclerosis

    Written by Caroline L. Simon, BS, Jamie H. Choi, MD, Kenneth J. Taubenslag, MD, and Moran R. Levin, MD. Photo by William Buie. All are at the University of Maryland School of Medicine, Baltimore.

    Fig. 1: Funduscopy. Fig. 2: OCT. Fig. 3: Fluorescein angiography.

    A 13-year-old girl presented to the ophthalmology clinic for a routine exam. Her visual acu­ity was 20/20, and she had no anterior segment abnormalities. Earlier, in 2017, she had presented to dermatology for facial rashes. In 2018, she had been admitted to the hospital for seizures, prompting brain magnetic resonance imaging (MRI), which showed multiple cortical tubers, subependymal nodules, and giant-cell astrocytomas. This led to the diagnosis of tuberous sclerosis.

    Dilated funduscopy of the right eye was significant for multiple astrocytic hamartomas with vessel whitening su­perior to the optic nerve (Fig. 1). These astrocytomas were limited to the inner retinal lay­ers, and no subretinal fluid or vessel compression was seen on OCT (Fig. 2). Fluorescein angiogra­phy showed patent blood vessels (Fig. 3).

    Retinal astrocytic hamartomas rarely affect vision. The patient’s seizures and tumor growth are managed with oral everolimus. She is followed every six months with dilated exams and yearly with MRI, transthoracic echocardiography, and renal ultrasonography to monitor for new tumors.

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