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    Systemic implications highlighted in retinal tumor findings

    San Francisco–Retinal tumors have taken on a new importance because of links to systemic disease, according to Carol Shields, MD. Through these links, specialists are improving the diagnosis and treatment of retinal tumors.

    Dr. Shields highlighted astrocytic hamartoma, retinoblastoma, and retinal capillary hemangiomoblastoma. “There has been so much progress in the last 10 years with retinoblastoma, you can’t believe it,” she said.

    Dr. Shields, of the Ocular Oncology Service, Wills Eye Hospital, Philadelphia, presented an overview of this research in her Founders Award Lecture at the American Society of Retina Specialists 2016 Annual Meeting.

    Astrocytic hamartoma

    Astrocytic hamartoma can be a calcified or non-calcified mass. Using spectral domain optical coherence tomography (SD-OCT) to study their cases, Dr. Shields and colleagues found that astrocytic hamartoma appeared in the nerve fiber layer– and in over 91% of cases–presents a “moth-eaten,” micro-cavitary appearance.

    This tumor causes mild retinal traction and is sometimes associated with tuberous sclerosis complex (TSC). A fundus finding of retina achromic patches, otherwise known as retinal pigment epithelium (RPE) punched-out lesions, can clinch the diagnosis of tuberous sclerosis complex.

    “This retina achromic patch is really not clearly understood,” Dr. Shields said. “Some people feel it’s a flat astrocytic tumor. We really don’t think it represents that condition. We think it’s simply RPE depigmentation, for some reason.”

    Courtesy of Carol Shields, MD

    In studying 56 patients with tuberous sclerosis complex, Dr. Shields and colleagues found a retina achromic patch in 21% of cases. In their published report, they also noted significant relationship of achromic patch with increasing number of astrocytic hamartomas, peripheral location of the astrocytic hamartomas, cognitive impairment, and seizures in these patients.

    Another study of 907 patients from the Tuberous Sclerosis Alliance and 132 from the Cleveland Clinic Tuberous Sclerosis Complex program showed that 35% had astrocytic hamartoma and 12% had achromic patches. If patients had either of these findings, they were at increased risk for brain astrocytomas, renal angiomyolipomas, cognitive impairment, and seizures.

    These findings suggest that identifying a retinal astrocytic hamartoma or an achromic patch can be ominous, she said. “So keep that in mind when you see such patients.”



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