Reevaluating the Association of Sex With ABCA4 Alleles in Patients With Stargardt Disease.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2021.0460
Abstract: Importance Probing differences in disease prevalence between sexes is challenging, especially in mendelian diseases. Independent replication of any association study is warranted. Objective To evaluate whether the recently reported association between sex and mild ABCA4… read more here.
Keywords: abca4 alleles; ophthalmology; association sex; association ... See more keywords
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23787
Abstract: Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation‐scanning methods. We aimed to develop a cost‐effective sequencing method for ABCA4 exons and regions carrying… read more here.
Keywords: deep intronic; cost effective; stargardt disease; intronic variants ... See more keywords
The absence of fundus abnormalities in Stargardt disease
Sign Up to like & getrecommendations! Published in 2019 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-019-04280-8
Abstract: PurposeTo raise awareness of Stargardt disease (STGD1) patients without fundus abnormalities.MethodsMedical records were evaluated for age at onset, initial symptoms and diagnosis, reason for delay of diagnosis, age at STGD1 diagnosis, best-corrected visual acuity (BCVA),… read more here.
Keywords: diagnosis; age; fundus abnormalities; fundus ... See more keywords
Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2018.07.018
Abstract: PURPOSE To describe a distinct phenotypic outcome of outer retinal degeneration in a cohort of genetically confirmed patients with recessive Stargardt disease (STGD1). DESIGN Retrospective case series. METHODS Twelve patients, who were clinically diagnosed with… read more here.
Keywords: exposure; disease; scleral exposure; end stage ... See more keywords
Longitudinal Changes of Fixation Stability and Location within 24 Months in Stargardt Disease: ProgStar Report No. 16: Short title: Longitudinal Changes of Fixation in Stargardt Disease.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2021.07.013
Abstract: OBJECTIVE Stargardt Disease type 1 (STGD1) is the most common macular dystrophy. The assessment of fixation describes an important dimension of visual function but there is limited data on its progression over time. We present… read more here.
Keywords: longitudinal changes; fixation; log; changes fixation ... See more keywords
Bilateral visual loss, behavioral changes, and overlooking in a young child with stargardt disease: Neurodiagnostic considerations
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2022.101307
Abstract: Purpose To illustrate the potential diagnostic confusion between Batten disease and Stargardt disease created by associated signs and symptoms. Observations A six-year-old girl with vision loss and prominent behavioral changes and overlooking was presumptively diagnosed… read more here.
Keywords: visual loss; stargardt disease; disease; behavioral changes ... See more keywords
Late-onset Stargardt disease
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2022.101429
Abstract: Purpose To report a case of late-onset Stargardt disease, discuss the differential diagnosis, and review the role of vitamin A supplementation in Stargardt disease. Observations A 60-year-old man presented with blurry vision in the right… read more here.
Keywords: late onset; stargardt disease; disease; onset stargardt ... See more keywords
Novel variants associated with Stargardt disease in Chinese patients.
Sign Up to like & getrecommendations! Published in 2020 at "Gene"
DOI: 10.1016/j.gene.2020.144890
Abstract: PURPOSE Stargardt disease (STGD) is the most frequent cause of hereditary macular dystrophy in childhood. Variants in the ABCA4, ELOVL4, PROM1, BEST1, and PRPH2 genes have been detected in patients with autosomal recessive or dominant… read more here.
Keywords: stgd; variants abca4; disease; chinese patients ... See more keywords
Stargardt’s disease presenting with bilateral central ring scotoma
Sign Up to like & getrecommendations! Published in 2018 at "Saudi Journal of Ophthalmology"
DOI: 10.1016/j.sjopt.2018.07.008
Abstract: Ring scotoma is an annular field defect centered on fixation. Age-related macular degeneration in the elderly and hydroxychloroquine toxicity in younger patients are usual causes of central ring scotoma. We report bilateral ring scotoma as… read more here.
Keywords: disease presenting; central ring; ring scotoma; stargardt disease ... See more keywords
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-0787-4
Abstract: 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.… read more here.
Keywords: resolving dark; dark matter; disease; matter abca4 ... See more keywords
Bis(monoacylglycero)phosphate lipids in the retinal pigment epithelium implicate lysosomal/endosomal dysfunction in a model of Stargardt disease and human retinas
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-17402-1
Abstract: Stargardt disease is a juvenile onset retinal degeneration, associated with elevated levels of lipofuscin and its bis-retinoid components, such as N-retinylidene-N-retinylethanolamine (A2E). However, the pathogenesis of Stargardt is still poorly understood and targeted treatments are… read more here.
Keywords: disease; bis; pigment epithelium; retinal pigment ... See more keywords