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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 in children. The scope of this review is to familiarise clinicians and scientists …
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
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 …
Twenty-five years of clinical applications using adaptive optics ophthalmoscopy
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 …
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)
Adaptive optics scanning light ophthalmoscopy (AOSLO) allows visualization of the living
human retina with exquisite single-cell resolution. This technology has improved our …
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 AO show great promise in advancing our understanding of the etiology of …
Applications of adaptive optics imaging for studying conditions affecting the fovea
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 layers and the accompanying vasculature, an increased density of cone …
Retinal imaging in inherited retinal diseases
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 …
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 …
subjects with autosomal-dominant (AD) and autosomal-recessive (AR) PROM1-associated …
[HTML][HTML] Clinical and molecular characterization of achromatopsia patients: a longitudinal study
Achromatopsia (ACHM) is a rare genetic disorder of infantile onset affecting cone
photoreceptors. To determine the extent of progressive retinal changes in achromatopsia …
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 …
disorders (IRDs), the leading cause of sight loss in children and working-age adults. ICDs …