In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant
S Ueno, A Nakanishi, T Kominami, Y Ito… - Japanese journal of …, 2017 - Springer
Purpose The 2 most common causative genes for achromatopsia (ACHM) are CNGA3 and
CNGB3; other genes including GNAT2 account for only a small portion of ACHM cases. The …
CNGB3; other genes including GNAT2 account for only a small portion of ACHM cases. The …
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia
C Schön, S Asteriti, S Koch… - Human molecular …, 2016 - academic.oup.com
Most inherited blinding diseases are characterized by compromised retinal function and
progressive degeneration of photoreceptors. However, the factors that affect the life span of …
progressive degeneration of photoreceptors. However, the factors that affect the life span of …
[HTML][HTML] Long-term investigation of retinal function in patients with achromatopsia
Methods: Subjects with molecularly confirmed ACHM were recruited in a prospective cohort
study of mesopic microperimetry. Coefficient of repeatability and intraclass correlation …
study of mesopic microperimetry. Coefficient of repeatability and intraclass correlation …
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing
P Reuter, M Walter, S Kohl, N Weisschuh - Scientific Reports, 2023 - nature.com
Achromatopsia is an autosomal recessive cone photoreceptor disease that is frequently
caused by pathogenic variants in the CNGA3 gene. Here, we present a systematic functional …
caused by pathogenic variants in the CNGA3 gene. Here, we present a systematic functional …
The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis
DJ Jackson, AM Dubis, M Moosajee - International Journal of Molecular …, 2022 - mdpi.com
Cyclic nucleotide-gated channel β 1 (CNGB1) encodes a subunit of the rod cyclic nucleotide-
gated channel. Pathogenic variants in CNGB1 are responsible for 4% of autosomal …
gated channel. Pathogenic variants in CNGB1 are responsible for 4% of autosomal …
[HTML][HTML] CNGA3 mutations in two United Arab Emirates families with achromatopsia
Y Ahuja, S Kohl, EI Traboulsi - Molecular Vision, 2008 - ncbi.nlm.nih.gov
Purpose Achromatopsia results from mutations in one of three genes: cyclic nucleotide-
gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and …
gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and …
Repeatability and longitudinal assessment of foveal cone structure in CNGB3-associated achromatopsia
CS Langlo, LR Erker, M Parker, EJ Patterson… - Retina, 2017 - journals.lww.com
Purpose: Congenital achromatopsia is an autosomal recessive disease causing substantial
reduction or complete absence of cone function. Although believed to be a relatively …
reduction or complete absence of cone function. Although believed to be a relatively …
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy
MM da Palma, M Marra, AD Igelman, CA Ku… - Ophthalmic …, 2024 - Taylor & Francis
Background Variants in HGSNAT have historically been associated with syndromic
mucopolysaccharidosis type IIIC (MPSIIIC) but more recent studies demonstrate cases of …
mucopolysaccharidosis type IIIC (MPSIIIC) but more recent studies demonstrate cases of …