Retinal Structure and Function in Achromatopsia: Implications for Gene Therapy

Photoreceptor Structure in GNAT2-Associated Achromatopsia

Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

Cone Photoreceptor Function Loss-3, a Novel Mouse Model of Achromatopsia Due to a Mutation in Gnat2

Mutation spectrum and clinical investigation ofachromatopsia patients with mutations in the GNAT2 gene

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Pineal Photoreceptor Cells Are Required for Maintainingthe Circadian Rhythms of Behavioral Visual Sensitivity inZebrafish

Genotype-Dependent Variability in Residual Cone Structure in Achromatopsia: Toward Developing Metrics for Assessing Cone Health

In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

A Naturally Occurring Mouse Model of Achromatopsia: Characterization of the Mutation in Cone Transducin and Subsequent Retinal Phenotype