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About 43 results

ALLMedicine™ Achromatopsia Center

Research & Reviews  17 results

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...

Preservation of the Foveal Avascular Zone in Achromatopsia Despite the Absence of a Ful...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463179
Investigative Ophthalmology & Visual Science; Linderman RE, Georgiou M et. al.

Sep 1st, 2020 - To examine the foveal avascular zone (FAZ) in patients with congenital achromatopsia (ACHM). Forty-two patients with genetically confirmed ACHM were imaged either with Optovue's AngioVue system or Zeiss's Plex Elite 9000, and the presence or absen...

Two novel PDE6C gene mutations in Chinese family with achromatopsia.
https://doi.org/10.1080/13816810.2020.1802762
Ophthalmic Genetics; Yuan S, Qi R et. al.

Aug 14th, 2020 - Background: Achromatopsia (ACHM) is an inherited retinal disease affecting the cone cell function. To date, six pathogenic genes of ACHM have been identified. However, the diagnostic and therapeutic methods of this disorder remain limited. Herein,...

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