Rare Disease Mystery Cases
Can you diagnose these unusual cases based on the examination and imaging?
Kenneth C. Fan, MD, MBA; Caroline C. Awh, MD; Nimesh A. Patel, MD; Marta Stevanovic, MD, MSc; Maria Emfietzoglou, MD; Demetrios Vavvas, MD, PhD; Mary V. Lang; Lisa A. Schimmenti, MD; and Brittni A. Scruggs, MD, PhD
Retina Today 
KEY TAKEAWAYS PRPH2-related diseases are autosomal dominant and have heterogeneous and variable presentations. Ocular manifestations of pseudoxanthoma elasticum include angioid streaks, peripapillary atrophy, and a high risk of choroidal neovascularization. Reported ophthalmic manifestations of Danon disease include peripheral salt-and-pepper retinopathy, macular atrophy, bulls-eye maculopathy, lens abnormalities, and visual field defects. Patients are referred to retina specialists for myriad reasons, many of which are easy to diagnose. However, when a patient’s symptoms, examination, and/or imaging don’t add up, it’s the retina specialist’s job to get to the bottom of the mystery, regardless of how unlikely the diagnosis. These mystery cases are designed to test your diagnostic skills and help improve your rare and inherited disease (IRD) know-how. - Rebecca Hepp, MA, Editor-in-Chief MYSTERY CASE NO. 1 By Kenneth C. Fan, MD, MBA A 47-year-old African American woman presented with a history of central vision loss that began in her 30s. She described central vision distortion that had gradually worsened, now coalescing into blind spots. Her vision was 20/40 OD and 20/40 OS with normal IOPs OU.
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