Several studies have investigated multiple aspects of retinal function in
RPE65-RD, including identifying progressive loss of retinal sensitivity over the first three decades of life, residual color discrimination in adults, and reduced cone-driven temporal sensitivity.
11–15 In contrast, retinal structure has only been investigated with optical coherence tomography (OCT). Initial time domain OCT (TD-OCT), has been superseded by spectral domain OCT (SD-OCT), which allows greater resolution, increased scanning speeds, and greater density scans, while minimizing eye motion artifacts.
16 The first retinal lamination scan by means of TD-OCT in a subject with
RPE65-RD identified an intact foveal contour, with qualitative thinning of the outer retina-choroid complex (albeit with limited resolution).
17 Subsequent quantitative cross-sectional OCT studies have used a mixture of TD-OCT and SD-OCT. Overall, retinal thickness has been shown to be within normal limits, or evidence of central preservation surrounded by retinal thinning, with no clear relationship between age and retinal thickness.
18 Following this, Jacobson et al. initially investigated outer nuclear layer (ONL) thickness in 11 children with
RPE65-RD, and suggested that cone photoreceptors are partially lost early in childhood, but residual cones can persist for decades and show a slow age-related decline.
19 Nine children (including seven of the above) were further imaged, and it was suggested that the ONL was, on average, thinner inferiorly, in comparison to relative preservation of ONL in the superior-temporal and temporal pericentral retina.
20 Through further expansion of the above 2 cohorts to 20 subjects (adults and children), the same group showed evidence that dark-adapted retinal sensitivity may be associated with ONL thickness.
21 Most recently, Chung et al. undertook a retrospective analysis of OCT scans in 32 subjects with
RPE65-RD, investigating only retinal thickness and ONL thickness, demonstrating no effect of age on either measure.
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