AC Britten-Jones, L Thai, JPM Flanagan… - Survey of …, 2024 - Elsevier
Adaptive optics (AO) imaging enables direct, objective assessments of retinal cells. Applications of AO show great promise in advancing our understanding of the etiology of …
HJ Kuht, GDE Maconachie, J Han, L Kessel… - Ophthalmology, 2022 - Elsevier
Purpose To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH). Design Multicenter, observational study. Participants A total of 907 patients with a confirmed …
KE Lee, H Heitkotter, J Carroll - Translational vision science & …, 2021 - tvst.arvojournals.org
Optical coherence tomography (OCT) allows noninvasive visualization of individual retinal layers and has become a mainstay in the diagnosis and management of a wide range of …
HJ Kuht, J Han, GDE Maconachie… - Human Molecular …, 2020 - academic.oup.com
Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative …
MG Thomas, E Papageorgiou, HJ Kuht… - British Journal of …, 2022 - bjo.bmj.com
Normal foveal development begins in utero at midgestation with centrifugal displacement of inner retinal layers (IRLs) from the location of the incipient fovea. The outer retinal changes …
Oculocutaneous Albinism and Ocular Albinism Overview - Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe PMC Menu About Tools Developers Help …
KJ Chern, ER Nettesheim, CA Reid, NW Li… - Communications …, 2022 - nature.com
Prostaglandin analogs are first-line treatments for open angle glaucoma and while effective at lowering intraocular pressure, they are undermined by patient non-compliance, causing …
Purpose: 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 …
Improved understanding of the mechanisms underlying inherited retinal degenerations has created the possibility of developing much needed treatments for these relentless, blinding …