Results 31 to 40 of about 10,317 (215)
Eye and Vision, 2020 Background Stargardt disease 1 (STGD1; MIM 248200) is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4. This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and ...
Rajendran Kadarkarai Raj +6 more
doaj +1 more source
Molecular Therapy: Nucleic Acids, 2023 Inherited retinal dystrophies comprise a broad group of genetic eye diseases without effective treatment. Among them, Stargardt disease is the second most prevalent pathology.
Laura Siles +4 more
doaj +1 more source
Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives [PDF]
, 2008 PURPOSE: To characterize contrast sensitivity (CS) across the visual field for two achromatic spatial-temporal frequencies in 21 families with Stargardt disease (STGD) and to correlate psychophysical impairment with patterns of change in multifocal ...
Castelo-Branco, Miguel +5 more
core +1 more source
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy [PDF]
, 2018 PURPOSE: To describe the earliest features of ABCA4-associated retinopathy. DESIGN: Case series. PARTICIPANTS: Children with a clinical and molecular diagnosis of ABCA4-associated retinopathy without evidence of macular atrophy.
Fujinami, K +10 more
core +2 more sources
Exploration of the functional consequences of fixational eye movements in the absence of a fovea. [PDF]
, 2020 A recent theory posits that ocular drifts of fixational eye movements serve to reformat the visual input of natural images, so that the power of the input image is equalized across a range of spatial frequencies.
Agaoglu, Mehmet N, Chung, Susana TL
core
SPECTRUM OF MOLECULAR GENETIC ALTERATIONS AND DIVERSITY OF CLINICAL FORMS OF STARGARDT DISEASE
Сибирский научный медицинский журнал, 2019 Purpose of the study was to assess the spectrum of molecular genetic disorders and the variety of clinical forms in patients with Stargardt disease. Material and methods.
N. L. Sheremet +8 more
doaj +1 more source
Fundus flavimaculatus and subretinal neovascularization: case report [PDF]
, 2005 Fundus flavimaculatus is a progressive, bilateral, hereditary retinal dystrophy characterized by ill-defined, yellowish, pisciform flecks at the level of the retinal pigment epithelium.
Aragão, Ricardo Evangelista Marrocos De +2 more
core +2 more sources
Foveal Sparing in Stargardt Disease [PDF]
Investigative Opthalmology & Visual Science, 2014 To provide a clinical and genetic description of a patient cohort with Stargardt disease (STGD1) with identifiable foveal sparing.Patients with retinal atrophy (defined as an absence of autofluorescence) that surrounded the fovea by at least 180° and did not include the fovea were defined as having foveal sparing; eyes with visual acuity (VA) worse ...
Huet, R.A.C. van +9 more
openaire +4 more sources
Choroidal Caverns in Stargardt Disease
Investigative Opthalmology & Visual Science, 2022 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.
Mucciolo, Dario Pasquale +9 more
openaire +3 more sources
Treatments for dry age-related macular degeneration and Stargardt disease : a systematic review [PDF]
, 2018 Background Age-related macular degeneration (AMD) is the leading cause of visual loss in older people. Advanced AMD takes two forms, neovascular (wet) and atrophic (dry). Stargardt disease (STGD) is the commonest form of inherited macular dystrophy.
Colquitt, Jill +6 more
core +3 more sources