Cone Structure in Retinal Degeneration Associated with Mutations in the<i>peripherin/RDS</i>Gene

Abstract

peripherin/RDS mutations produced diffuse AF abnormalities, disruption of the photoreceptor/RPE junction, and increased cone spacing, consistent with cone loss in the macula. The abnormalities observed suggest that the integrity of the second intradiscal domain of peripherin/RDS is critical for normal macular cone structure.