Retinal Structure and Function in Achromatopsia: Implications for Gene Therapy – Corrected Proof

Purpose: To characterize retinal structure and function in achromatopsia (ACHM) in preparation for clinical trials of gene therapy.Design: Cross-sectional study.Participants: Forty subjects with ACHM.Methods: All subjects underwent spectral domain optical coherence tomography (SD-OCT), microperimetry, and molecular genetic testing. Foveal structure on SD-OCT was graded into 5 distinct categories: (1) continuous inner segment ellipsoid (ISe), (2) ISe disruption, (3) ISe absence, (4) presence of a hyporeflective zone (HRZ), and (5) outer retinal atrophy including retinal pigment epithelial loss. Foveal and outer nuclear layer (ONL) thickness was measured and presence of hypoplasia determined.Main Outcome Measures: Photoreceptor appearance on SD-OCT imaging, foveal and (Read more...)

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