Abstract
Purpose :
The disease progression of retinitis pigmentosa (RP) differs between individuals and between different genetic subtypes. We performed a retrospective clinical study to characterize the natural disease progression in PRPF31-related autosomal dominant retinitis pigmentosa (RP11).
Methods :
We identified individuals with RP11 and collected retrospective data from disease onset to present date including genetics, demographic data, Goldmann visual field areas, and visual acuity measures. Visual fields were evaluated as summed squared degrees and best corrected visual acuities were converted to logMAR. We performed linear mixed model regression analysis on the longitudinal data to evaluate the annual disease progression in visual fields, and we used survival analysis to evaluate the age when a person first meets legal blindness criteria.
Results :
We included information on 46 subjects with RP11. Our study population represented 17 unique PRPF31 variants. Median age of disease onset was 10 years (range 5-65). Follow-up spanned from 0-36 years with a median of 8 years. Goldmann visual field areas decreased by 9.7% (95% CI 7.4 – 11.9) with Goldmann target IV4e and by 7.5% (95% CI 4.8 – 10.1) with target III4e per year. Best corrected visual acuity tends to decrease with age, however it did not decline to less than 20/200 in any of our cases. Survival analysis showed that half of the RP11 patients had reached legal blindness by the median age of 57 years (95% CI 41-75 years).
Conclusions :
In retinitis pigmentosa caused by PRPF31 variants, disease onset is most frequently in early childhood with a variable disease progression depending on onset of symptoms. Visual field area deteriorates faster than best corrected visual acuity, and visual field loss is the main reason for legal blindness in our study population. Visual acuity naturally declines with age, but individuals with RP11 maintain a fair and relatively stable central visual acuity until late state disease in high age. This study characterizes the progression of retinitis pigmentosa caused by PRPF31 variants and can aid conduction of future prospective trials, and to advice and inform RP11 patients in a clinical setting.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.