Achromatopsia—Rod Monochromacy

Abstract Achromatopsia is also referred to as rod monochromacy (or rod monochromatism), complete (or total) color blindness (OMIM #216900, #262300, #139340, #613093, #610024, #616517), or day blindness (hemeralopia) with pronounced photophobia, and is inherited as an autosomal recessive trait. This chapter covers clinical description and diagnosis (including psychophysics, electrophysiology, and retinal imaging), management and visual aids, prevalence, and the genetic basis (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6) of achromatopsia. In addition, available animal models carrying disease-associated variants in the achromatopsia-associated genes are introduced that elucidated the underlying pathogenic mechanisms and were used to develop and evaluate gene therapy. Finally, the chapter summarizes the gene therapeutic current concepts related to this disease.