Phenoty** and genoty** inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …

M Georgiou, AG Robson, K Fu**ami… - Progress in retinal and …, 2024 - Elsevier
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and in children. The scope of this review is to familiarise clinicians and scientists …

Inherited retinal diseases: Therapeutics, clinical trials and end points—A review

M Georgiou, K Fu**ami… - Clinical & Experimental …, 2021 - Wiley Online Library
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …

Twenty-five years of clinical applications using adaptive optics ophthalmoscopy

JIW Morgan, TYP Chui, K Grieve - Biomedical optics express, 2022 - opg.optica.org
Twenty-five years ago, adaptive optics (AO) was combined with fundus photography,
thereby initiating a new era in the field of ophthalmic imaging. Since that time, clinical …

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 sco** 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 …

Applications of adaptive optics imaging for studying conditions affecting the fovea

J Kreis, J Carroll - Annual Review of Vision Science, 2024 - annualreviews.org
The fovea is a highly specialized region of the central retina, defined by an absence of inner
retinal layers and the accompanying vasculature, an increased density of cone …

Retinal imaging in inherited retinal diseases

M Georgiou, K Fu**ami… - Annals of eye science, 2020 - pmc.ncbi.nlm.nih.gov
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population. The advances in ocular genetics, retinal imaging and molecular biology, have …

Deep phenoty** of PROM1-associated retinal degeneration

G Schließleder, A Kalitzeos, M Kasilian… - British Journal of …, 2024 - bjo.bmj.com
Background/aims The purpose of this study was to investigate retinal structure in detail of
subjects with autosomal-dominant (AD) and autosomal-recessive (AR) PROM1-associated …

[HTML][HTML] Clinical and molecular characterization of achromatopsia patients: a longitudinal study

R Brunetti-Pierri, M Karali, P Melillo, V Di Iorio… - International Journal of …, 2021 - mdpi.com
Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone
photoreceptors. To determine the extent of progressive retinal changes in achromatopsia …

Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders

C Brotherton, R Megaw - Genes, 2024 - mdpi.com
Inherited cone disorders (ICDs) are a heterogeneous sub-group of inherited retinal
disorders (IRDs), the leading cause of sight loss in children and working-age adults. ICDs …