July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Genetic Testing Adds Research and Clinical Value to a Retinal Degeneration Registry
Author Affiliations & Notes
  • Kari E Branham
    Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, United States
  • Joan Fisher
    Foundation Fighting Blindness, Columbia, Maryland, United States
  • Karmen Trzupek
    InformedDNA, St. Petersburg, Florida, United States
  • David G Birch
    Retina Foundation of the Southwest, Dallas, Texas, United States
  • Jacque L Duncan
    University of California, San Francisco, San Francisco, California, United States
  • Stephen P Daiger
    University of Texas Health Sciences Center, Houston, Texas, United States
  • Brian C Mansfield
    Foundation Fighting Blindness, Columbia, Maryland, United States
  • Footnotes
    Commercial Relationships   Kari Branham, None; Joan Fisher, None; Karmen Trzupek, None; David Birch, None; Jacque Duncan, None; Stephen Daiger, None; Brian Mansfield, None
  • Footnotes
    Support  Foundation Fighting Blindness, George Gund Foundation, William Stamps Farish Fund, RPB Nelson Trust Award for Retinitis Pigmentosa
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 4472. doi:
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    • Get Citation

      Kari E Branham, Joan Fisher, Karmen Trzupek, David G Birch, Jacque L Duncan, Stephen P Daiger, Brian C Mansfield; Genetic Testing Adds Research and Clinical Value to a Retinal Degeneration Registry. Invest. Ophthalmol. Vis. Sci. 2018;59(9):4472.

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

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Purpose : To provide a status report on a non-profit patient registry, My Retina Tracker® (MRT), and its genetic testing program for patients affected with retinal degenerative disease (RDD). MRT is a patient-driven registry that curates demographic, genetic, and ophthalmic data in patients affected with RDDs. The goal of the genetic testing program is to facilitate patient access to gene-specific or mutation-specific clinical trials and natural history studies. The addition of genetic data will also strengthen the research value of the registry.

Methods : Study participants were recruited from six RDD clinics nationwide, both academic and non-academic. The genetic testing study was open to MRT participants with an RDD diagnosis confirmed in MRT by an RDD specialist. Participants entered ophthalmic, family history, and health history data into MRT. Clinicians entered ophthalmic data. A commercial CLIA-certified genetic testing lab analyzed blood or saliva samples for a 181-gene retinal dystrophy NGS panel and CNV analysis. All subjects received genetic counseling regarding the results of their genetic testing, and the results were entered into MRT.

Results : Since the initiation of the study in January 2017, genetic test results have been received on 509 participants. The most common enrollment diagnoses were Retinitis Pigmentosa (N=297) and Stargardt disease (N=69). Across all diagnoses, results on 238 patients identified pathogenic and/or likely pathogenic variants that were likely to be the cause of disease. An additional 44 participants had a pathogenic/likely pathogenic variant and/or a variant of unknown significance in a gene that was possibly the cause of their disease. In 73 patients, the gene identified as the likely cause of disease is currently being investigated in gene-specific, stem cell, or drug-based clinical trials. These genes include ABCA4, CHM, CNGA3, CNGB3, RPE65, RPGR, MERTK and RS1. The program continues to enroll approximately 70 new enrollees/month and plans expansion to additional sites in 2018. Segregation analysis has begun on some enrollees and will continue to a greater extent as the program progresses.

Conclusions : Inclusion of the genetic testing program associated with MRT will greatly enhance the MRT database as a tool for studying RDDs. Moreover, determining the genetic basis for disease will allow increased patient participation in clinical trials and natural history studies.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.


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