ALLMedicine™ Achromatopsia Center
Research & Reviews 23 results
The American Journal of Pathology; Lee EJ, Diaz-Aguilar MS et. al.
Dec 20th, 2022 - Activating transcription factor 6 (ATF6), a key regulator of the unfolded protein response, plays a key role in endoplasmic reticulum function and protein homeostasis. Variants of ATF6 that abrogate transcriptional activity cause morphologic and m...
Investigative Ophthalmology & Visual Science; Triantafylla M, Papageorgiou E et. al.
Aug 6th, 2022 - This prospective study investigates longitudinal changes in retinal structure in patients with achromatopsia (ACHM) using optical coherence tomography (OCT). Seventeen patients (five adults, 12 children) with genetically confirmed CNGA3- or CNGB3-...
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 ...
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...
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 ...