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 …
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 …
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 …
Artificial intelligence in retinal screening using OCT images: A review of the last decade (2013–2023)
Background and objectives Optical coherence tomography (OCT) has ushered in a
transformative era in the domain of ophthalmology, offering non-invasive imaging with high …
transformative era in the domain of ophthalmology, offering non-invasive imaging with high …
Release of extracellular membrane particles carrying the stem cell marker prominin-1 (CD133) from neural progenitors and other epithelial cells
Apical plasma membrane constituents of mammalian neural stem/progenitor cells have
recently been implicated in maintaining their stem/progenitor cell state. Here, we report that …
recently been implicated in maintaining their stem/progenitor cell state. Here, we report that …
The role of inflammation in the pathogenesis of age-related macular degeneration
LA Donoso, D Kim, A Frost, A Callahan… - Survey of …, 2006 - Elsevier
Age-related macular degeneration (AMD), the leading cause of blindness in the elderly, is a
complex disease to study because of the potential role of demographic, environmental, and …
complex disease to study because of the potential role of demographic, environmental, and …
[HTML][HTML] Clinical and molecular characteristics of childhood-onset Stargardt disease
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 …
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
CJF Boon, AI den Hollander, CB Hoyng… - Progress in retinal and …, 2008 - Elsevier
Peripherin/rds is an integral membrane glycoprotein, mainly located in the rod and cone
outer segments. The relevance of this protein to photoreceptor outer segment morphology …
outer segments. The relevance of this protein to photoreceptor outer segment morphology …
[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 …