1. Mar 24, 2020

Stargardt Disease Often Misdiagnosed

During a presentation at the Wills Eye Conference, Manuel B. Ibanez IV, MD, DPBO discussed the frequency of misdiagnosing Stargardt disease and how ocular geneticists can help.

In a retrospective analysis of 41 patients with a diagnosis of Stargardt disease who were referred to Wills Eye Hospital between 2015 and 2018, researchers used a standard definition of Stargardt disease to determine if patients were “likely” or “not likely” to have the disease.

Approximately 36% of patients (n = 15) were found to be misdiagnosed after DNA testing: 9 patients did not have Stargardt disease or ABCA4 mutation, 3 patients did not have Stargardt disease but did have ABCA4 mutation, and phenotype assessment detmerined 3 additional patients were “not likely” to have Stargardt disease although no DNA testing was done.


Ibanez MB IV. Stargardt misdiagnosis: how ocular genetics helps. Presented at: Wills Eye Conference; Mar. 7-9, 2019; Philadelphia.