July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Stargardt Misdiagnosis: How Ocular Genetics Helps
Author Affiliations & Notes
  • Alex V Levin
    Ped-Ophthal & Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, United States
  • Thales A. C. de Guimarães
    Ped-Ophthal & Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, United States
  • Manuel B. Ibañez
    Ped-Ophthal & Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, United States
  • Jenina E. Capasso
    Ped-Ophthal & Ocular Genetics, Wills Eye Hospital, Philadelphia, Pennsylvania, United States
  • Footnotes
    Commercial Relationships   Alex Levin, None; Thales Guimarães, None; Manuel Ibañez, None; Jenina Capasso, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 3973. doi:
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      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.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : 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.

Methods : Retrospective review of patients referred with Stargardt over three years. Results of diagnostic testing and DNA were compared to standard definition of Stargardt.

Results : 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.

Conclusions : 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.

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