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View article: Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction Open
Certain combinations of common variants in exon 3 of OPN1LW and OPN1MW, the genes encoding the apo-protein of the long- and middle-wavelength sensitive cone photoreceptor visual pigments in humans, induce splicing defects and have been ass…
View article: Evaluation of the Blinq Vision Screener in the Detection of Amblyopia and Strabismus in Children
Evaluation of the Blinq Vision Screener in the Detection of Amblyopia and Strabismus in Children Open
The blinq device detects visual axis alignment abnormalities with potential impact in the early detection of strabismus and subsequent associated amblyopia.
View article: Three cases of molecularly confirmed Knobloch syndrome
Three cases of molecularly confirmed Knobloch syndrome Open
Background: Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the COL18A1 gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for t…