Author:
Bozkaya Duygu,Zou Heng,Lu Cindy,Tsao Nicole W.,Lam Byron L.
Abstract
Abstract
Background
Choroideremia is a rare inherited retinal disease that leads to blindness. Visual acuity (VA) is a key outcome measure in choroideremia treatment studies, but VA decline rates change with age. An accurate understanding of the natural deterioration of VA in choroideremia is important to assess the treatment effect of new therapies in which VA is the primary outcome measure. We conducted a meta-analysis of data on individuals with choroideremia to determine the rate of VA deterioration between the better- and worse-seeing eye (BSE and WSE, respectively).
Methods
Data were collected from the prospective Natural History of the Progression of Choroideremia (NIGHT) study (613 eyes, baseline data only), studies included in a recent meta-analysis, and studies identified in a targeted literature search performed on March 25, 2020, including individual best-corrected VA (BCVA) and age data in male individuals with choroideremia. Best-corrected VA decline rates (measured by logMAR units) by age and trends in BCVA decline rates in the BSE and WSE were evaluated.
Results
Data from 1037 males (1602 eyes; mean age, 41.8 years) were included. Before and after an age cutoff of 33.8 years, BCVA decline rates for the WSE were 0.0086 and 0.0219 logMAR per year, respectively. Before and after an age cutoff of 39.1 years, BCVA decline rates for the BSE were 0.00001 and 0.0203 logMAR per year, respectively. Differences in absolute BCVA and decline rates increased between the 2 eyes until age ~ 40; thereafter, differences in absolute BCVA and decline rates were similar between eyes.
Conclusions
Using the largest choroideremia data set to date, this analysis demonstrates accelerated BCVA decline beginning between 30 and 40 years of age. Disparate interocular progression rates were observed before the transition age, with similar interocular progression rates after the transition age.
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology,General Medicine
Reference61 articles.
1. Zinkernagel MS, MacLaren RE. Recent advances and future prospects in choroideremia. Clin Ophthalmol. 2015;9:2195–200.
2. Freund PR, Sergeev YV, MacDonald IM. Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy. Mol Genet Genomic Med. 2016;4:344–58.
3. Lam BL, Fischer MD, Pennesi ME, Sankila E-MK, Holz FG, Maclaren RE, et al. Natural History of the Progression of Choroideremia (NIGHT) study: longitudinal changes in visual acuity over 20 months. Poster presented at: American Academy of Ophthalmology Annual Meeting Chicago; 2018.
4. van Schuppen SM, Talib M, Bergen AA, Ten Brink JB, Florijn RJ, Boon CJF, et al. Long-term follow-up of patients with choroideremia with scleral pits and tunnels as a novel observation. Retina. 2018;38:1713–24.
5. Heon E, Alabduljalil T, McGuigan DB III, Cideciyan AV, Li S, Chen S, et al. Visual function and central retinal structure in choroideremia. Invest Ophthalmol Vis Sci. 2016;57:OCT377–87.
Cited by
4 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献