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 …

Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia,
nystagmus, color blindness and severely reduced visual acuity. Currently mutations in five …

Purpose To characterize retinal structure and function in achromatopsia (ACHM) in
preparation for clinical trials of gene therapy. Design Cross-sectional study. Participants …

Purpose Achromatopsia is a congenital autosomal recessive cone disorder, and it has been
found to be associated with six genes. However, pathogenic variants in these six genes …

Achromatopsia (ACHM) is an autosomal recessive disease that results in severe visual loss.
Symptoms of ACHM include impaired visual acuity, nystagmus, and photoaversion starting …

Purpose To assess the safety and efficacy of AAV8-hCARp. hCNGB3 in participants with
CNGB3-associated achromatopsia (ACHM). Design Prospective, phase 1/2 …

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 …

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

Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing
color blindness, reduced vision, nystagmus and photophobia. New treatments are being …

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 …