Organizing Section: Retina Program Number: 3216 Poster Board Number: B0349 Presentation Time: 11:00 AM–12:45 PM EZ Width Reflects Disease Severity in adRP Patients with PRPF31 Gene Mutations

Program Number: 3216 Poster Board Number: B0349 Presentation Time: 11:00 AM–12:45 PM EZ Width Reflects Disease Severity in adRP Patients with PRPF31 Gene Mutations Kaylie Webb-Jones1, Martin Klein1, Sara J. Bowne2, Lori S. Sullivan2, Stephen P. Daiger2, 4, David G. Birch1, 3. 1Retina Foundation of the Southwest, Dallas, TX; 2Human Genetics Center, School of Public Health, The Univ. of Texas Health Science Center, Houston, TX; 3Dept. Ophthalmology, Univ. of Texas Southwestern Medical Center, Dallas, TX; 4Ruiz Dept. of Ophthalmology and Visual Science, The Univ. of Texas Health Science Center, Houston, TX. Purpose: Mutations in the pre-mRNA splicing factor gene PRPF31 are one of the most common causes of autosomal dominant retinitis pigmentosa (adRP), accounting for 5.5-8.7% of cases (Sullivan 2006; Daiger 2014). Here we investigate the relationships between visual acuity (VA), kinetic perimetry and the ellipsoid zone (EZ) width in adRP patients with mutations in PRPF31. Methods: Spectral domain optical coherence tomography (SD-OCT) horizontal line scans through the fovea were obtained for both eyes of eighteen RP patients (range: 10-72 yrs; mean: 43 ± 20 yrs) from 10 families with mutations in PRPF31. The EZ band was delineated and its horizontal width was determined (Hood 2011). Visual acuity (VA) was measured with a computerized version of the electronic Early Treatment Diabetic Retinopathy Study (e-ETDRS). Octopus (isopter III) kinetic perimetry was used to measure visual field diameter. Correlations were examined by Pearson’s correlation tests. Results: The mean EZ width was not significantly different between eyes (mean ± 95% CI: 12.0° ± 5.04 OD; 13.1° ± 4.9 OS). Mean VA was also comparable between eyes 0.38 ± 0.0.25 logMAR OD; 0.33 ± 0.18 logMAR OS), therefore OD was selected for correlation analysis. EZ width was significantly correlated with VA (r=-0.724, p<0.001) and visual field diameter (r=0.885, p=0.002). EZ width was also significantly correlated with age (r=-0.586, p<0.001). Conclusions: Previous studies have shown EZ width to be a useful tool to monitor disease progression in adRP, X-linked RP and Usher syndrome IB patients (Birch 2013; Cai, 2014; Sumaroka 2016). Here, we found that EZ width reflects disease severity in that it correlates with age, VA, and visual field diameter. These finding suggest that EZ width or area can be used as a measurement of disease progression in patients with mutations in PRPF31. Commercial Relationships: Kaylie Webb-Jones, None; Martin Klein, None; Sara J. Bowne, None; Lori S. Sullivan, None; Stephen P. Daiger, None; David G. Birch, None Support: Foundation Fighting Blindness, NEI EY09076, NIH EY007142, William Stamps Farish Fund