Inherited retinal diseases: therapeutics, clinical trials and end points—a review
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …
disorders characterised by photoreceptor degeneration or dysfunction. These disorders …
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy
Progressive cone and cone-rod dystrophies are a clinically and genetically heterogeneous
group of inherited retinal diseases characterised by cone photoreceptor degeneration …
group of inherited retinal diseases characterised by cone photoreceptor degeneration …
Cell atlas of the human fovea and peripheral retina
Most irreversible blindness results from retinal disease. To advance our understanding of
the etiology of blinding diseases, we used single-cell RNA-sequencing (scRNA-seq) to …
the etiology of blinding diseases, we used single-cell RNA-sequencing (scRNA-seq) to …
Phenoty** and genoty** inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …
population and children. The scope of this review is to familiarise clinicians and scientists …
Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration
RS Molday, FA Garces, JF Scortecci… - Progress in retinal and eye …, 2022 - Elsevier
ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters that is
preferentially localized along the rim region of rod and cone photoreceptor outer segment …
preferentially localized along the rim region of rod and cone photoreceptor outer segment …
Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope
The rod photoreceptors are implicated in a number of devastating retinal diseases.
However, routine imaging of these cells has remained elusive, even with the advent of …
However, routine imaging of these cells has remained elusive, even with the advent of …
Photoreceptor cilia and retinal ciliopathies
Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …
responses. This process, called phototransduction, takes place in the outer segments (OS) …
A review of the mechanisms of cone degeneration in retinitis pigmentosa
Retinitis pigmentosa (RP) is an inherited condition that features degeneration of rod and
cone photoreceptors. In all forms of RP, the genetic mutation is expressed exclusively in …
cone photoreceptors. In all forms of RP, the genetic mutation is expressed exclusively in …
Do you know the sex of your cells?
K Shah, CE McCormack… - American Journal of …, 2014 - journals.physiology.org
Do you know the sex of your cells? Not a question that is frequently heard around the lab
bench, yet thanks to recent research is probably one that should be asked. It is self-evident …
bench, yet thanks to recent research is probably one that should be asked. It is self-evident …
Gene therapy rescues cone function in congenital achromatopsia
AM Komáromy, JJ Alexander, JS Rowlan… - Human molecular …, 2010 - academic.oup.com
The successful restoration of visual function with recombinant adeno-associated virus
(rAAV)-mediated gene replacement therapy in animals and humans with an inherited …
(rAAV)-mediated gene replacement therapy in animals and humans with an inherited …