Achromatopsia is a genetic disorder of cones, and one of the most common forms is a
channelopathy caused by mutations in the β-subunit, CNGB3, of the cone cyclic nucleotide …

OBJECTIVE: To investigate whether the major achromatopsia genes (CNGA3 and CNGB3)
play a role in the cause of progressive cone dystrophy (CD). DESIGN: Prospective …

Background Achromatopsia (ACHM) is a severe congenital autosomal recessive retinal
disorder caused by loss of cone photoreceptors. Here, we aimed to determine the …

Achromatopsia: a review : Current Opinion in Ophthalmology Achromatopsia: a review : Current
Opinion in Ophthalmology Log in or Register Subscribe to journalSubscribe Get new issue …

Achromatopsia is a complex inherited retinal disease that affects the cone cell function. It is
usually an autosomal-recessive disease and is characterized by pendular nystagmus, poor …

Purpose: To investigate retinal structure in subjects with CNGA3-associated achromatopsia
and evaluate disease symmetry and intrafamilial variability. Methods: Thirty-eight …

Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an
autosomal recessively inherited retinal disorder that affects the cones of the retina, the type …

Objective To study the clinical features and to identify the pathogenic mutations in Chinese
patients with achromatopsia (ACHM). Design Fifteen patients from 10 unrelated families …

Adeno-associated virus (AAV) vectors are important gene delivery tools for the treatment of
many recessively inherited retinal diseases. For example, a wild-type (WT) AAV5 vector can …

OBJECTIVE: To investigate the genetic causes of complete and incomplete achromatopsia
(ACHM) and assess the association between disease-causing mutations, phenotype at …