[HTML][HTML] 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 …
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14
W Wiszniewski, RA Lewis, JR Lupski - Human genetics, 2007 - Springer
Achromatopsia (ACHM) or rod monochromacy is an autosomal recessive and genetically
heterogeneous retinal disorder. It is characterized by a lack of color discrimination, poor …
heterogeneous retinal disorder. It is characterized by a lack of color discrimination, poor …
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
AK Mayer, C Van Cauwenbergh, C Rother… - Human …, 2017 - Wiley Online Library
Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision
defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is …
defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is …
Achromatopsia as a potential candidate for gene therapy
JJ Pang, J Alexander, B Lei, W Deng, K Zhang… - Retinal Degenerative …, 2010 - Springer
Achromatopsia is an autosomal recessive retinal disease involving loss of cone function that
afflicts approximately 1 in 30,000 individuals. Patients with achromatopsia usually have …
afflicts approximately 1 in 30,000 individuals. Patients with achromatopsia usually have …
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide‐gated channels, resulting in achromatopsia
CNGA3 encodes the A‐subunit of the cone photoreceptor cyclic nucleotide‐gated (CNG)
channel, which is a crucial component of the phototransduction cascade in cone outer …
channel, which is a crucial component of the phototransduction cascade in cone outer …
Achromatopsia: on the doorstep of a possible therapy
D Zobor, G Zobor, S Kohl - Ophthalmic research, 2015 - karger.com
Achromatopsia (ACHM) is a rare autosomal recessive inherited retinal disorder with an
incidence of approximately 1 in 30,000. It presents at birth or early infancy and is typically …
incidence of approximately 1 in 30,000. It presents at birth or early infancy and is typically …
[HTML][HTML] CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function
NW Khan, B Wissinger, S Kohl… - … ophthalmology & visual …, 2007 - arvojournals.org
purpose. CNGB3 encodes the β-subunits of cyclic nucleotide-gated channels in the
photoreceptor plasma membrane. CNGB3 mutations cause a channelopathy that results in …
photoreceptor plasma membrane. CNGB3 mutations cause a channelopathy that results in …
Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to …
S Kohl, B Baumann, M Broghammer… - Human molecular …, 2000 - academic.oup.com
Achromatopsia is an autosomal recessive disorder featuring total colour blindness,
photophobia, reduced visual acuity and nystagmus. While mutations in the CNGA3 gene on …
photophobia, reduced visual acuity and nystagmus. While mutations in the CNGA3 gene on …
Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel
Abstract Total colourblindness (OMIM 216900), also referred to as rod monochromacy (RM)
or complete achromatopsia, is a rare, autosomal recessive inherited and congenital disorder …
or complete achromatopsia, is a rare, autosomal recessive inherited and congenital disorder …
[HTML][HTML] AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia
J Pang, WT Deng, X Dai, B Lei, D Everhart, Y Umino… - PloS one, 2012 - journals.plos.org
Achromatopsia is a rare autosomal recessive disorder which shows color blindness,
severely impaired visual acuity, and extreme sensitivity to bright light. Mutations in the alpha …
severely impaired visual acuity, and extreme sensitivity to bright light. Mutations in the alpha …