Abstract
BackgroundChoroideremia 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).MethodsData 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. ResultsData 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.ConclusionsUsing 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.
Highlights
Choroideremia is a rare inherited retinal disease that leads to blindness
Because only 28 (3.9%) individuals from 3 (13.0%) studies had more than 1 best-corrected Visual acuity (VA) (BCVA) measurement [20, 39, 48], the present study focused on cross-sectional data analysis
Data obtained from the literature were merged with BCVA measurements from the Natural History of the Progression of Choroideremia (NIGHT) study (320 participants, 613 eyes) [3, 26,27,28,29], creating a final data set of 1037 individuals and 1602 eyes (Table 1)
Summary
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. Choroideremia is a rare inherited retinal disease that results in progressive vision loss, leading to blindness [1,2,3,4,5,6,7]. As clinical studies for choroideremia include visual acuity (VA) as an outcome [19,20,21], it is important to understand and establish an accurate description of the natural deterioration of VA in choroideremia to assess the treatment effect that new therapies may have in changing the disease course. The results of the meta-analysis supported a 2-phase linear model of BCVA decline with a transition age of 39 years
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