Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by
impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six …

The present review summarizes the current status of achromatopsia (ACHM) gene therapy‐
related research activities and provides an outlook for their clinical application. ACHM is an …

Purpose Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that
manifests cone dysfunction, reduced visual acuity and color vision, nystagmus, and …

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

Purpose.: Achromatopsia (ACHM) is a congenital autosomal recessive cone disorder with a
presumed stationary nature and only a few causative genes. Animal studies suggest that …

Complete achromatopsia (ie, rod monochromacy) is a congenital vision disorder in which
cone function is absent or severely diminished, often due to mutations in one of two …

Purpose: To describe the clinical phenotype, with emphasis on the electrophysiological
findings, of patients with autosomal recessive rod monochromacy (RM) and defined …

purpose. To determine the molecular basis for phenotypic variability in a three-generation
consanguineous family containing a single individual with complete achromatopsia and …

Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone
photoreceptors. To determine the extent of progressive retinal changes in achromatopsia …

Complete achromatopsia is genetically heterogeneous and segregates with mutations in
CNGA3 or CNGB3 genes, which respectively encode for α-and β-subunits of the cyclic …