Wills Eye Conference

Wills Eye Conference

March 14, 2019
2 min read

Ocular geneticists find high rate of misdiagnosis of Stargardt disease

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Manuel B. Ibanez

PHILADELPHIA — Ocular geneticists found a near 37% rate of misdiagnosis of Stargardt disease, which highlights the need for more specialists in a rare field, according to a study presented here.

“Stargardt diagnosis can be challenging due to the heterogeneity,” Manuel B. Ibanez IV, MD, DPBO, said at the Wills Eye Conference. Familiarity with genotypes/phenotypes associated with such a heterogenous disease is key to making the correct diagnosis, he said.

The retrospective analysis included 41 patients with a diagnosis of Stargardt disease who were referred to Wills Eye Hospital between 2015 and 2018. Using a standard definition for the disease, Ibanez and colleagues performed phenotype assessment to group patients as being “likely” or “not likely” to have Stargardt disease.

DNA testing confirmed nine patients had neither Stargardt disease nor ABCA4 mutation, which can cause Stargardt-like disease, and three patients did not have Stargardt disease but did have ABCA4 mutation. Three other patients were found “not likely” to have Stargardt disease by phenotype assessment, but no DNA testing was done.

The misdiagnosis of the 15 patients (36.6%) emphasizes the need for accuracy in diagnosis that ocular geneticists can provide, particularly when formulating treatment trials, Ibanez said. – by Scott Buzby



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

Disclosure: Ibanez reports no relevant financial disclosures.