Purpose: Mutations in six genes have been associated with achromatopsia (ACHM):
CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is the most recent gene to be
identified, though thorough phenotyping of this genetic subtype is lacking. Here, we sought
to test the hypothesis that ATF6-associated ACHM is a structurally distinct form of congenital
ACHM. Methods: Seven genetically confirmed subjects from five nonconsanguineous
families were recruited. Foveal hypoplasia and the integrity of the ellipsoid zone (EZ) band …

Purpose: ATF6 mutations have been associated with achromatopsia (ACHM). In contrast to
CNGA3/B3-associated ACHM, it has been suggested that these individuals have disrupted
parafoveal cone structure but supranormal cone density outside the central 1.5 mm.[1] The
degree of remnant cone structure is important for defining therapeutic potential in these
patients. Here we examined retinal structure in subjects with ATF6-associated ACHM.
Methods: Seven subjects from 5 independent families with genetically confirmed ATF6 …