To compare the efficacy of whole genome sequencing (WGS) with targeted next-generation sequencing (NGS) in the diagnosis of inherited retinal disease (IRD).
Wolfram syndrome, or diabetes insipidus, diabetes mellitus, optic atrophy [OA], and deafness (DIDMOAD), is a neurodegenerative disorder with heterogeneous clinical manifestations caused by homozygous or compound heterozygous recessive mutations in the WFS1 gene (OMIM 606201).1 More recently, the phenotypic spectrum has expanded to include patients with dominant inheritance and limited clinical features, in particular OA in association with diabetes mellitus and/or sensorineural deafness.1 WFS1 encodes for an endoplasmic reticulum transmembrane protein, Wolframin, which is highly expressed in retinal tissues, including retinal ganglion cells, the photoreceptor inner segments, and the inner nuclear layer (INL) of the human eye, and mouse Müller cells.
To investigate the comparative efficacy of bevacizumab (Avastin) and ranibizumab (Lucentis; both Genentech, Inc, South San Francisco, CA) for diabetic macular edema (DME) using a crossover study design.
To assess the prevalence of subretinal drusenoid deposits (SDD) in older adults with healthy maculas and early and intermediate age-related macular degeneration (AMD) using multimodal imaging.
To evaluate the 5-year efficacy of a foldable, hydrophobic, angle-supported phakic intraocular lens (pIOL) when used to correct moderate to high myopia.
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