Ocular geneticists find high rate of misdiagnosis of Stargardt disease

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

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