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Quick Case

A Rare Retinal Disorder Mimics AMD

Fundus autofluorescence of the right eye showing hyperautofluorescence corresponding to the yellow lesions.

Fundus autofluorescence of the right eye showing hyperautofluorescence corresponding to the yellow lesions.

A 40-year-old woman consulted her local ophthalmologist after noticing visual distortion while reading, difficulties with her night vision, and sensitivity to light. Although the patient’s visual acuity was good—20/20 in her right eye and 20/25 in her left—her presentation was concerning for age-related macular degeneration (AMD), a condition known to have affected other family members, and she was referred to the Duke Eye Center for further work-up.

At Duke, a retinal specialist observed that the patient’s clinical presentation differed slightly from typical AMD and might instead be a genetic disease that mimics AMD. He referred her to Alessandro Iannaccone, MD, MS, the director of the Center for Retinal Degenerations and Ophthalmic Genetic Diseases at Duke.

Question: Iannaccone ultimately recommended a therapy commonly used to treat exudative complications from AMD. Why was it still beneficial to confirm that the patient’s condition was a pattern dystrophy rather than AMD, even if the treatment protocol did not change?

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