"Stargardt disease"

Automated identification of fleck lesions in Stargardt disease using deep learning enhances lesion detection sensitivity and enables morphometric analysis of flecks. To classify fleck lesions and assess artificial intelligence (AI) in identifying flecks in Stargardt disease (STGD). A retrospective study of 170 eyes from 85 consecutive patients with confirmed STGD. Fundus autofluorescence images

Longitudinal Adaptive Optics Scanning Laser Ophthalmoscopy Reveals Regional Variation in Cone and Rod Photoreceptor Loss in Stargardt Disease. To investigate the temporal sequence of changes in the photoreceptor cell mosaic in patients with Stargardt disease type 1 (STGD1), using adaptive optics scanning laser ophthalmoscopy (AOSLO). Two brothers with genetically confirmed STGD1 underwent were greater than normal in both patients. The ratio of the cone spacing to rod spacing was greater than normal across all eccentricities, with a greater divergence closer to the foveal center. Cone cell loss may be an early pathogenetic step in Stargardt disease. AOSLO provides the capability to track individual photoreceptor changes longitudinally in Stargardt disease. The pathogenetic mechanism

Choroidal Hyperreflective Foci as Biomarkers of Severity in Stargardt Disease. To investigate the clinical implications of choroidal hyperreflective foci (HF) as biomarkers of disease severity in Stargardt disease (STGD). 129 eyes from 66 patients with STGD were included. The primary outcome was the correlation between the number of foveal choroidal HF and indicators of disease severity

Charles Bonnet syndrome in patients with Stargardt disease: prevalence and risk factors. To describe the prevalence of the Charles Bonnet syndrome (CBS) and search for potential CBS risk factors in a Dutch Stargardt disease (STGD1) cohort. Eighty-three patients with STGD1 were screened for CBS. They underwent a full eye examination. All patients completed the social functioning domain of the 36

At-Home Trial of Four Different Head-Mounted Displays in Visual Rehabilitation of People with Stargardt Disease. To examine the potential of different head-mounted displays in the rehabilitation of individuals with visual impairment. This prospective explorative study conducted between September 2019 and August 2020 included participants with Stargardt disease with moderate to severe visual

The progression of Stargardt Disease as determined by fundus autofluorescence over a 24-month period (ProgStar Report No. 17). To estimate the progression rate of atrophic lesions in Stargardt disease derived from fundus autofluorecence (FAF). International, multicenter, prospective cohort study. 259 participants aged ≥6 years with disease-causing variants in the ABCA4 gene, were enrolled from

Prognostication in Stargardt disease using Fundus Autofluorescence: Improving Patient Care. To explore fundus autofluorescence (FAF) imaging as an alternative to electroretinogram (ERG), as a non-invasive, quick, and readily interpretable method to predict disease progression in Stargardt disease (STGD). Retrospective case series of patients who attended Moorfields Eye Hospital (London, UK

Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5. To report on the safety of the first 5 cohorts of a gene therapy trial using recombinant equine infectious anemia virus expressing ABCA4 (EIAV-ABCA4) in adults with Stargardt dystrophy due to mutations

Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients With Stargardt Disease: SMART Study Report No. 2. To estimate and compare cross-sectional scotopic versus mesopic macular sensitivity losses measured by microperimetry, and to report and compare the longitudinal rates of scotopic and mesopic macular sensitivity losses in ABCA4 gene -associated Stargardt disease (STGD1). This was a multicenter prospective cohort study. Participants comprised 127 molecularly confirmed STGD1 patients enrolled from 6 centers in the United States and Europe and followed up every 6 months for up to 2 years. The Nidek MP-1S device was used to measure macular sensitivities of the central 20° under mesopic and scotopic conditions. The mean deviations (MD) from

Longitudinal Changes of Fixation Stability and Location Within 24 Months in Stargardt Disease: ProgStar Report No. 16. Stargardt disease type 1 (STGD1) is the most common macular dystrophy. The assessment of fixation describes an important dimension of visual function, but data on its progression over time are limited. We present longitudinal changes and investigate its usefulness for clinical

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity. Recurrence risk calculations in autosomal recessive diseases are complicated when the effect of genetic variants and their population frequencies and penetrances are unknown. An example of this is Stargardt disease (STGD1), a frequent recessive retinal disease caused by bi-allelic pathogenic

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease. The effect of noncoding variants is often unknown in the absence of functional assays. Here, we characterized an ABCA4 intron 7 variant, c.859-25A>G, identified in Palestinian probands with Stargardt disease (STGD) or cone-rod dystrophy (CRD). We

Evaluation of Local Rod and Cone Function in Stargardt Disease. In this study, chromatic pupil campimetry (CPC) was used to map local functional degenerative changes of cones and rods in Stargardt disease (STGD1). 19 patients (age 36 ± 8 years; 12 males) with genetically confirmed ABCA4 mutations and a clinical diagnosis of STGD1 and 12 age-matched controls (age 37 ± 11 years; 2 males) underwent

Choroidal Caverns in Stargardt Disease. To report choroidal caverns in patients affected by recessive Stargardt disease (STGD1) and to investigate its clinical features. Retrospective analysis of STGD1 patients recruited at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence from 2012 to 2017. Patients included in the study underwent a complete

Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease. Stargardt disease is a rare, inherited, degenerative disease of the retina that is the most common type of hereditary macular dystrophy. Currently, no approved treatments for the disease exist. The purpose of this study was to characterise the pharmacodynamics of emixustat, an orally available small molecule that targets the retinal pigment epithelium-specific 65 kDa protein (RPE65), in subjects with macular atrophy secondary to Stargardt disease. In this multicentre study conducted at six study sites in the USA, 23 subjects with macular atrophy secondary to Stargardt disease were randomised to one of three doses of daily emixustat (2.5 mg, 5 mg or 10

SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE. To investigate concordance in symptom onset, area of dark autofluorescence (DAF), and growth rate (GR) between Stargardt disease siblings at an age-matched time point. In this retrospective longitudinal study of sibling pairs with identical biallelic ABCA4 variants

TRANSPLANTATION OF SUBRETINAL STEM CELL-DERIVED RETINAL PIGMENT EPITHELIUM FOR STARGARDT'S DISEASE: A PHASE I CLINICAL TRIAL. To assess the safety of injecting human embryonic stem cell retinal pigment epithelial (hESC-RPE) cell dose to treat Stargardt's disease. In this prospective, phase I clinical trial, hESC-RPE cells in suspension were injected into the subretinal space in eyes

A Pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.

Stargardt disease masquerades. Stargardt disease is the most common inherited macular dystrophy but has a wide clinical spectrum, and several inherited macular dystrophies have phenotypic similarities that can make clinical diagnosis challenging. This review seeks to highlight key clinical and multimodal imaging features to aid clinicians in accurate diagnosis. Multimodal imaging has provided additional information to aid in the diagnosis of Stargardt disease and its masquerades. These data from multimodal imaging are important to correlate with findings from clinical examination to help support the clinical diagnosis or guide molecular investigations. This review highlights the key similarities and differences, in history, clinical examination and multimodal imaging, to help distinguish

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in 1054 unsolved STGD and STGD-like probands. Sequencing