Characterization of Retinal Structure in ATF6 -Associated Achromatopsia

Mutations in six genes have been associated with achromatopsia (ACHM): CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is the most recent gene to be identified, though thorough phenotyping of this genetic subtype is lacking. Here, we sought to test the hypothesis that ATF6-associated ACHM is a str...

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Vydáno v:	Investigative ophthalmology & visual science Ročník 60; číslo 7; s. 2631 - 2640
Hlavní autoři:	Mastey, Rebecca R., Georgiou, Michalis, Langlo, Christopher S., Kalitzeos, Angelos, Patterson, Emily J., Kane, Thomas, Singh, Navjit, Vincent, Ajoy, Moore, Anthony T., Tsang, Stephen H., Lin, Jonathan H., Young, Marielle P., Hartnett, M. Elizabeth, Héon, Elise, Kohl, Susanne, Michaelides, Michel, Carroll, Joseph
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States The Association for Research in Vision and Ophthalmology 01.06.2019
Témata:	Activating Transcription Factor 6 - genetics Adolescent Adult Child Color Vision Defects - diagnostic imaging Color Vision Defects - genetics Color Vision Defects - pathology Cyclic Nucleotide-Gated Cation Channels - genetics Electroretinography Female Fovea Centralis - abnormalities Fovea Centralis - diagnostic imaging Humans Male Middle Aged Mutation Ophthalmoscopy Retina Retinal Cone Photoreceptor Cells - pathology Retinal Pigment Epithelium - diagnostic imaging Retinal Pigment Epithelium - pathology Retinal Rod Photoreceptor Cells - pathology Tomography, Optical Coherence Visual Acuity
ISSN:	1552-5783, 0146-0404, 1552-5783
On-line přístup:	Získat plný text
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