Purchase this article with an account.
Alex V Levin, Thales A. C. de Guimarães, Manuel B. Ibañez, Jenina E. Capasso; Stargardt Misdiagnosis: How Ocular Genetics Helps. Invest. Ophthalmol. Vis. Sci. 2019;60(9):3973.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Ocular Genetics at Wills Eye sees a wide range of rare disorders for accurate diagnosis. To demonstrate how focused consultation and DNA testing results in precise diagnoses, we investigated false diagnosis rates for patients referred for Stargardt disease.
Retrospective review of patients referred with Stargardt over three years. Results of diagnostic testing and DNA were compared to standard definition of Stargardt.
Of 41 patients, 15 (36.6%) had been misdiagnosed. Six had non-Stargardt phenotype of which 3 had ABCA4 mutation, and 9 had another DNA confirmed diagnosis.
Our study highlights the essential role of the subspecialty field of ocular genetics in obtaining accurate diagnoses for the delivery of correct counseling and interventional trial eligibility assessment.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
This PDF is available to Subscribers Only