Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy
and is associated with disease-causing sequence variants in the gene ABCA4. Significant …
and is associated with disease-causing sequence variants in the gene ABCA4. Significant …
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 …
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
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 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
[HTML][HTML] Transplantation of human embryonic stem cell-derived retinal pigment epithelial cells in macular degeneration
Purpose Transplantation of human embryonic stem cell (hESC)-derived retinal pigment
epithelial (RPE) cells offers the potential for benefit in macular degeneration. Previous trials …
epithelial (RPE) cells offers the potential for benefit in macular degeneration. Previous trials …
Cellular mechanisms of hereditary photoreceptor degeneration–Focus on cGMP
The cellular mechanisms underlying hereditary photoreceptor degeneration are still poorly
understood, a problem that is exacerbated by the enormous genetic heterogeneity of this …
understood, a problem that is exacerbated by the enormous genetic heterogeneity of this …
[HTML][HTML] Endpoints for clinical trials in ophthalmology
With the identification of novel targets, the number of interventional clinical trials in
ophthalmology has increased. Visual acuity has for a long time been considered the gold …
ophthalmology has increased. Visual acuity has for a long time been considered the gold …
[HTML][HTML] Clinical and molecular characteristics of childhood-onset Stargardt disease
K Fu**ami, J Zernant, RK Chana, GA Wright… - Ophthalmology, 2015 - Elsevier
Purpose To describe the clinical and molecular characteristics of patients with childhood-
onset Stargardt disease (STGD). Design Retrospective case series. Participants Forty-two …
onset Stargardt disease (STGD). Design Retrospective case series. Participants Forty-two …
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are
characterised by bilateral symmetrical central visual loss. Advances in genetic testing over …
characterised by bilateral symmetrical central visual loss. Advances in genetic testing over …
Early-onset stargardt disease: phenotypic and genotypic characteristics
S Lambertus, RAC van Huet, NM Bax, LH Hoefsloot… - Ophthalmology, 2015 - Elsevier
Objective To describe the phenotype and genotype of patients with early-onset Stargardt
disease. Design Retrospective cohort study. Participants Fifty-one Stargardt patients with …
disease. Design Retrospective cohort study. Participants Fifty-one Stargardt patients with …
[HTML][HTML] A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations
Purpose.: We characterized subtypes of fundus autofluorescence (AF) and the progression
of retinal atrophy, and correlated these findings with genotype in Stargardt disease …
of retinal atrophy, and correlated these findings with genotype in Stargardt disease …