Abstract
Purpose :
To compare the clinical and molecular diagnosis for 20 patients diagnosed with inherited retinal degeneration (IRD).
Methods :
After signing informed consent, peripheral blood or saliva was collected from 20 probands and 8 family members for segregation analysis. Genetic testing was performed on each patient in a Clinical Laboratory Improvement Amendment (CLIA) certified laboratory. Segregation analysis was performed for 8 families and a minigene assay was used to assess 4 genetic variants predicted to alter splicing.
Results :
Of the 20 IRD families, 9 families were recessive, 9 were dominant IRD, and 2 were for X-linked. Causative genetic variants were found in the genes RHO (5%), ADGRV1 (5%), RP2 (5%), USH2A (5%), PDE6A (5%), BEST1 (10%), RPGR (10%), CNGB1 (10%), PRPH2 (25%), AND ABCA4(20%) for the families evaluated. Results from molecular testing, segregation analysis, and/or minigene assays changed the clinical diagnosis for 6 (30%) families. Ambiguous clinical diagnosis for 2 families (10%) were clarified with molecular testing and the clinical diagnosis for 12 (60%) families with IRD were consistent with the molecular diagnosis.
Conclusions :
Clinical diagnosis has revealed 8 novel variants and expands the collective knowledge of the genetic basis of IRD.
This is a 2020 ARVO Annual Meeting abstract.