Skip to main content

5 articles related to "Achromatopsia"

No matches to your query could be found. Try another search term.
No matches to your query could be found. Try another search term.
No matches to your query could be found. Try another search term.
No matches to your query could be found. Try another search term.
No matches to your query could be found. Try another search term.

Articles

Brief Research Report

Published on 29 Nov 2024

Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family

in Genetics of Common and Rare Diseases

Xiaoqiang Zhou
Yasi Zhou
Shuijuan Wu
Xiaoling Guo
Liangfeng Yao
Xingkun Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1457569

1,481 views

Original Research

Published on 14 Oct 2021

Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia

in Perception Science

Rebecca Lowndes
Barbara Molz
Lucy Warriner
Anne Herbik
Pieter B. de Best
Noa Raz
Andre Gouws
Khazar Ahmadi
Rebecca J. McLean
Irene Gottlob

Frontiers in Neuroscience

doi 10.3389/fnins.2021.718958

4,877 views
12 citations

Original Research

Published on 02 Apr 2025

Clinical and genetic features of CNGA3 achromatopsia in preschool children: novel insights into retinal architecture and therapeutic window for clinical trials

in Ophthalmology

Yanting Lai
Aohan Hou
Linyan Zhang
Limei Sun
Miner Yuan
Xiaoyan Ding

Frontiers in Medicine

doi 10.3389/fmed.2025.1560556

2,602 views
1 citation

Original Research

Published on 24 May 2017

AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects

in Neurodegeneration

Regine Mühlfriedel
Naoyuki Tanimoto
Christian Schön
Vithiyanjali Sothilingam
Marina Garcia Garrido
Susanne C. Beck
Gesine Huber
Martin Biel
Mathias W. Seeliger
Stylianos Michalakis

Frontiers in Neuroscience

doi 10.3389/fnins.2017.00292

7,164 views
30 citations

Original Research

Published on 09 Jun 2015

Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels

in Membrane Physiology and Membrane Biophysics

Peter C. Meighan
Changhong Peng
Michael D. Varnum

Frontiers in Physiology

doi 10.3389/fphys.2015.00177

5,382 views
11 citations