Screening of patients for inherited retinal disease associated gene mutations in a university and university-affiliated retina-only private practice.

Abstract

Purpose : Recently, gene therapy, Luxturna^TM (voretigene neparvovec), has been FDA-approved to restore visual function and slow vision loss in patients with RPE65-associated Leber’s Congenital Amaurosis (LCA) Type 2 and retinitis pigmentosa. This novel therapy has garnered enthusiasm for having appropriate patients tested for RPE65 as well as other pathologically significant gene mutations. This study aims to establish a process to screen patients who have been diagnosed with retinal degeneration disorders for the presence of several retinal-associated gene mutations via two testing services: Prevention Genetics and Blueprint Genetics (Foundation Fighting Blindness My Retina Tracker® registry).

Methods : A query was made of the Ilinois Retina Associates (IRA) and Rush University Eye Center Physicians (RU ECP) databases to identify patients who have diagnoses that represent retinal degenerative diseases, initially RPE65 mediated diseases. Patients are contacted if they have remaining functional vision and asked if they would like to have a dilated fundus exam through insurance and participate in free genetic testing. Samples are sent to either Prevention Genetics (for RPE65 gene testing) or a more comprehensive testing through Blueprint Genetics (My Retina Tracker®) for processing and data reporting. Patients are then genetically counseled on results.

Results : 487 patients at IRA and 49 patients at RU ECP were identified to have been diagnosed with appropriate codes H35.52, H35.50 or H35.53 between 1/1/2014 and 2/5/2018. Twenty six patients have been tested for retinal specific gene mutations through Prevention Genetics or Blueprint Genetics to date. Twenty patients have testing resulted and six patients have pending results. 0/20 (0%) of patients have a positive result for RPE 65. 10/20 (50%) of patients had positive results of heterozygosity in at least one implicated gene. 6/20 (30%) of patients have positive results of variants of unknown significance.

Conclusions : With the evolution of a therapy for retinal degenerative disorders, it is becoming increasingly important to offer genetic testing to our patients with these progressive diseases. By widening the scope of testing on patients with retinal degenerative disorders to test for many genetic variants, we can help increase the fund of knowledge that may connect these genes to pathology.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.