Asad F. Durrani, MD
Wills Eye Hospital
Philadelphia, PA
During this session of Atlantic Coast Retina Club 2023, faculty presented their most interesting and challenging cases of the past year.
First, Dr. Anthanasios Papakostas (The Retina Institute) presented a case of a 26-year-old male with serpent-shaped bilateral retinal pigment epithelial loss emanating from the optic nerves. Optical coherence tomography demonstrated infiltration of the anterior choroid, which tipped the audience off to the diagnosis. Careful review of the patient’s history revealed he was recently incarcerated and QuantiFERON testing proved to be positive. Treatment with RIPE therapy resulted in improvement in visual acuity from 20/200 to 20/25 in this case of serpiginous-like choroiditis secondary to tuberculosis.
Next, Dr. Richard Spaide (VRMC of NY) shared a case of a patient with extensive RPE atrophy involving the macula and periphery resulting in a striking appearance on fundus autofluorescence. Work-up, including genetic testing, was unrevealing, however, Dr. Spaide was able to deduce from the patient’s history of night vision problems that she had vitamin A deficiency. Despite Dr. Spaide heroically administering intramuscular vitamin A himself, the patient remained vitamin A deficient due to a combination of vitamin A transport and storage issues.
The attending case session concluded by shifting gears towards genetic disease as Dr. Ninel Z. Gregori (Bascom Palmer Eye Institute) presented a case of a patient with Leber Congenital Amaurosis treated with voretigene neparvovec-rzyl. The patient developed progressive atrophy within the macula in the area of subretinal gene therapy injection, while experiencing subjective improvements in her vision and objective improvements in her visual field. The take home point of this case was that unintended structural loss from atrophy does not always limit functional gains with gene therapy.
Finally, Dr. Jasmine H. Francis (Memorial Sloan Kettering Cancer Center) concluded the day with a 31 year old patient with numerous choroidal nevi in both eyes as well as an iris nevus in the left eye. The patient had also had a history of osteosarcoma as a teenager and had an extensive family history of different cancers on both sides of the family. The patient was found to have a POT1 mutation, which encodes for a protein critical to telomere maintenance. With a creative English bread themed mnemonic, Dr. Francis reminded the audience that POT1 mutations can lead to not only skin and uveal melanoma, but also colon cancer, glioma, chronic lymphocytic leukemia, angiosarcoma, and osteosarcoma.
