Investigative ophthalmology & visual science
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Invest. Ophthalmol. Vis. Sci. · Jul 2015
Time Outdoors and Myopia Progression Over 2 Years in Chinese Children: The Anyang Childhood Eye Study.
To investigate whether time outdoors and a range of other activities are associated with change in spherical equivalent (SE) and axial length in Chinese children over a period of 2 years. ⋯ Within the normal range of variation encountered in these Chinese children, a wide range of activities were largely unrelated to myopia progression at this age. However, there was suggestive evidence that greater time outdoors was associated with slower axial elongation in nonmyopic teenagers, but not in existing myopes.
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Invest. Ophthalmol. Vis. Sci. · Jul 2015
Case ReportsAutosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.
Mutations in BEST1, encoding bestrophin-1 (Best1), cause autosomal recessive bestrophinopathy (ARB). Encoding bestrophin-1 is a pentameric anion channel localized to the basolateral plasma membrane of the RPE. Here, we characterize the effects of the mutations R141H (CGC > CAC) and I366fsX18 (c.1098_1100+7del), identified in a patient in our practice, on Best1 trafficking, oligomerization, and channel activity. ⋯ The first 366 amino acids of Best1 are sufficient to mediate channel activity and homo-oligomerization. The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB. Since both combinations generate comparable Cl- currents, this indicates that ARB in this patient is not caused by a loss of channel activity. Moreover, Best1 I366fsX18 differs from Best1 in that it lacks most of the cytosolic C-terminal domain, suggesting that the loss of this region contributes significantly to the pathogenesis of ARB in this patient.
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Invest. Ophthalmol. Vis. Sci. · Jul 2015
In Vivo Foveal Development Using Optical Coherence Tomography.
To characterize the time course of normal foveal development in vivo in term infants and young children using handheld spectral-domain optical coherence tomography (HH-SDOCT). ⋯ We have modeled for the first time the complex, nonlinear developmental trajectories for each retinal layer and demonstrate that development continues until adolescence. Our description of normal development will be helpful in diagnosing, monitoring, and understanding pediatric retinal disease.