Achromatopsia: genetics and gene therapy
S Michalakis, M Gerhardt, G Rudolph… - Molecular diagnosis & …, 2022 - Springer
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 …
autosomal recessively inherited retinal disorder that affects the cones of the retina, the type …
Causes and consequences of inherited cone disorders
S Roosing, AAHJ Thiadens, CB Hoyng… - Progress in retinal and …, 2014 - Elsevier
Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy
LS Carvalho, J Xu, RA Pearson, AJ Smith… - Human molecular …, 2011 - academic.oup.com
Mutations in the CNGB3 gene account for> 50% of all known cases of achromatopsia.
Although of early onset, its stationary character and the potential for rapid assessment of …
Although of early onset, its stationary character and the potential for rapid assessment of …
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options
Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity,
impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly …
impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly …
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
M Solaki, B Baumann, P Reuter, S Andreasson… - Human …, 2022 - Wiley Online Library
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by
impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six …
impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six …
[HTML][HTML] Achromatopsia
Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased
sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or …
sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or …
[HTML][HTML] The clinical phenotype of CNGA3-related achromatopsia: pretreatment characterization in preparation of a gene replacement therapy trial
D Zobor, A Werner, F Stanzial… - … & Visual Science, 2017 - tvst.arvojournals.org
Purpose: The purpose of this study was to clinically characterize patients with CNGA3-linked
achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. Methods: Thirty-six …
achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. Methods: Thirty-six …
Biology, pathobiology and gene therapy of CNG channel-related retinopathies
MJ Gerhardt, SG Priglinger, M Biel, S Michalakis - Biomedicines, 2023 - mdpi.com
The visual process begins with the absorption of photons by photopigments of cone and rod
photoreceptors in the retina. In this process, the signal is first amplified by a cyclic guanosine …
photoreceptors in the retina. In this process, the signal is first amplified by a cyclic guanosine …
[HTML][HTML] Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing
W Sun, S Li, X Xiao, P Wang, Q Zhang - Molecular vision, 2020 - ncbi.nlm.nih.gov
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 …
found to be associated with six genes. However, pathogenic variants in these six genes …
Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel
Numerous missense mutations in cyclic nucleotide-gated (CNG) channels cause
achromatopsia and retinitis pigmentosa, but the underlying pathogenic mechanisms are …
achromatopsia and retinitis pigmentosa, but the underlying pathogenic mechanisms are …