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Monique J Leys, Beau Froebel, Rebecca Coakley, Aimie Jones, J. Vernon Odom; Identification of the Genotypes of Inherited Retinal Disease with Night Blindness in West Virginia. Invest. Ophthalmol. Vis. Sci. 2019;60(9):2928. doi: https://doi.org/.
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We tested fifty-one patients with inherited retinal disease (IRD) with presumed night blindness who were referred to the West Virginia University Eye Institute Electrodiagnostic Clinic using the ID YOUR IRD Next Generation Sequencing (NGS) panel of 31 genes. Our goal was to establish a molecular diagnosis for the IRDs.
Fifty-one patients had ERG testing and ID YOUR IRD panel test. We eliminated 2 patients with normal ERGs. Forty-seven patients were Caucasian, 2 were African American, 25 were female, 24 male. Average age was 41(1-83).Visual acuity, visual field, fundoscopy with autofluorescence imaging, OCT, ERG, medical and family history with inheritance pattern were reviewed.
The results of Spark Therapeutics ID YOUR IRD panel of 31 inherited retinal disease genes did identify a definite molecular diagnosis in 7 patients based on identification of pathogenic variants in the 31 tested genes. Diagnosis was confirmed in TULP1 (1), Rho (4), Ush2A (2). Extrapolation to affected family members predicted a diagnosis for 24 patients. One patient with a CNGA1 and 2 with a RPGRIP1 mutation had a second presumed disease causing new heterozygous mutation resulting in likely diagnosis for 5 family members. Negative targeted variant testing for white dot genes confirmed LRAT (1) mutations to be disease causing in a fundus albipunctatus patient. Additional targeted testing for X linked RP confirmed RPGR X linked RP in a family with 4 affected members. A referral to the genetics department identified a chromosomal abnormality in a family member with bilateral coloboma. The remainder of the patients had only one heterozygous mutation or were carriers of variants of uncertain significance or no mutations were found.
The identification of these genotypes resulted in a more precise diagnosis for 35 patients. This is important for counseling and possible future treatment. Larger panels including genes for X linked RP, CSNB would have yielded higher results.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
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