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] Non-syndromic retinitis pigmentosa

SK Verbakel, RAC van Huet, CJF Boon… - Progress in retinal and …, 2018 - Elsevier
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …

Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease

KJ Carss, G Arno, M Erwood, J Stephens… - The American Journal of …, 2017 - cell.com
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

Photoreceptors at a glance

RS Molday, OL Moritz - Journal of cell science, 2015 - journals.biologists.com
Retinal photoreceptor cells contain a specialized outer segment (OS) compartment that
functions in the capture of light and its conversion into electrical signals in a process known …

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

JS Gill, M Georgiou, A Kalitzeos, AT Moore… - British Journal of …, 2019 - bjo.bmj.com
Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous
group of inherited retinal diseases characterised by cone photoreceptor degeneration …

[HTML][HTML] Dynamic lipid turnover in photoreceptors and retinal pigment epithelium throughout life

D Lewandowski, CL Sander, A Tworak, F Gao… - Progress in retinal and …, 2022 - Elsevier
The retinal pigment epithelium-photoreceptor interphase is renewed each day in a stunning
display of cellular interdependence. While photoreceptors use photosensitive pigments to …

Ophthalmic drug discovery: novel targets and mechanisms for retinal diseases and glaucoma

K Zhang, L Zhang, RN Weinreb - Nature reviews Drug discovery, 2012 - nature.com
Blindness affects 60 million people worldwide. The leading causes of irreversible blindness
include age-related macular degeneration, retinal vascular diseases and glaucoma. The …

CD133 as a biomarker for putative cancer stem cells in solid tumours: limitations, problems and challenges

P Grosse‐Gehling, CA Fargeas, C Dittfeld… - The Journal of …, 2013 - Wiley Online Library
The cancer stem cell (CSC) hypothesis, despite the limitations of the currently available
models and assays, has ushered in a new era of excitement in cancer research. The …

Photoreceptor cilia and retinal ciliopathies

KM Bujakowska, Q Liu… - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …

Stem cells in retinal regeneration: past, present and future

CM Ramsden, MB Powner, AJF Carr… - …, 2013 - journals.biologists.com
Stem cell therapy for retinal disease is under way, and several clinical trials are currently
recruiting. These trials use human embryonic, foetal and umbilical cord tissue-derived stem …