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 …

[HTML][HTML] Adaptive optics imaging of the human retina

SA Burns, AE Elsner, KA Sapoznik, RL Warner… - Progress in retinal and …, 2019 - Elsevier
Adaptive Optics (AO) retinal imaging has provided revolutionary tools to scientists and
clinicians for studying retinal structure and function in the living eye. From animal models to …

Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options

N Rahman, M Georgiou, KN Khan… - British Journal of …, 2020 - bjo.bmj.com
Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are
characterised by bilateral symmetrical central visual loss. Advances in genetic testing over …

Adaptive optics imaging of inherited retinal diseases

M Georgiou, A Kalitzeos, EJ Patterson… - British Journal of …, 2018 - bjo.bmj.com
Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenoty** on a
microscopic scale, thereby hel** to improve our understanding of retinal diseases. An …

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 …

RPGR-related retinopathy: clinical features, molecular genetics, and gene replacement therapy

S Awadh Hashem, M Georgiou, RR Ali… - Cold Spring Harbor …, 2023 - discovery.ucl.ac.uk
Retinitis pigmentosa GTPase regulator (RPGR) gene variants are the predominant cause of
X-linked retinitis pigmentosa (XLRP) and a common cause of cone-rod dystrophy (CORD) …

Automatic cone photoreceptor localisation in healthy and Stargardt afflicted retinas using deep learning

B Davidson, A Kalitzeos, J Carroll, A Dubra… - Scientific reports, 2018 - nature.com
We present a robust deep learning framework for the automatic localisation of cone
photoreceptor cells in Adaptive Optics Scanning Light Ophthalmoscope (AOSLO) split …

[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 …

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 develo** much needed treatments for these relentless, blinding …

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 …