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About 50 results

ALLMedicine™ Achromatopsia Center

Research & Reviews  20 results

Structural changes to primary visual cortex in the congenital absence of cone input in ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8718719
NeuroImage. Clinical; Molz B, Herbik A et. al.

Dec 28th, 2021 - Autosomal recessive Achromatopsia (ACHM) is a rare inherited disorder associated with dysfunctional cone photoreceptors resulting in a congenital absence of cone input to visual cortex. This might lead to distinct changes in cortical architecture ...

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8477987
Molecular Vision; Aweidah H, Salameh M et. al.

Oct 28th, 2021 - Although most (or even all) genes that can cause achromatopsia (ACHM) when mutated are known, some patients are still negative for mutations even after screening the coding sequence of all known genes. Our aim was to characterize the genetic and c...

Long-Term Investigation of Retinal Function in Patients with Achromatopsia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509756
Investigative Ophthalmology & Visual Science; Georgiou M, Singh N et. al.

Sep 23rd, 2020 - To investigate the long-term natural history of retinal function of achromatopsia (ACHM). Subjects with molecularly confirmed ACHM were recruited in a prospective cohort study of mesopic microperimetry. Coefficient of repeatability and intraclass ...

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7443117
Investigative Ophthalmology & Visual Science; Di Scipio M, Tavares E et. al.

Sep 4th, 2020 - To demonstrate the effectiveness of combining retinal phenotyping and focused variant filtering from genome sequencing (GS) in identifying deep intronic disease causing variants in inherited retinal dystrophies. Affected members from three pedigre...

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