Promises and pitfalls of evaluating photoreceptor-based retinal disease with adaptive optics scanning light ophthalmoscopy (AOSLO)

N Wynne, J Carroll, JL Duncan - Progress in retinal and eye research, 2021 - Elsevier
Adaptive optics scanning light ophthalmoscopy (AOSLO) allows visualization of the living
human retina with exquisite single-cell resolution. This technology has improved our …

[HTML][HTML] Adaptive optics imaging in inherited retinal diseases: A scoping review of the clinical literature

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 …

[HTML][HTML] Genotypic and phenotypic spectrum of foveal hypoplasia: a multicenter study

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 …

Challenges associated with ellipsoid zone intensity measurements using optical coherence tomography

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 …

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization

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 …

Normal and abnormal foveal development

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 …

[HTML][HTML] Oculocutaneous albinism and ocular albinism overview

MG Thomas, J Zippin, BP Brooks - 2023 - europepmc.org
Oculocutaneous Albinism and Ocular Albinism Overview - Abstract - Europe PMC Sign in |
Create an account https://orcid.org Europe PMC Menu About Tools Developers Help …

Prostaglandin-based rAAV-mediated glaucoma gene therapy in Brown Norway rats

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 …

[HTML][HTML] Characterization of retinal structure in ATF6-associated achromatopsia

RR Mastey, M Georgiou, CS Langlo… - … & visual science, 2019 - tvst.arvojournals.org
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 …

Photoreceptor-based biomarkers in AOSLO retinal imaging

KM Litts, RF Cooper, JL Duncan… - … ophthalmology & visual …, 2017 - iovs.arvojournals.org
Improved understanding of the mechanisms underlying inherited retinal degenerations has
created the possibility of developing much needed treatments for these relentless, blinding …