Results 81 to 90 of about 4,867,114 (192)
The effect of light deprivation in patients with Stargardt disease
, 2015 Item does not contain fulltextPURPOSE: To investigate whether long-term protection from light exposure affects the rate of disease progression in patients with autosomal recessive Stargardt disease (STGD1), measured using fundus autofluorescence imaging.
Klevering, B.J. +15 more
core +1 more source
Molecular diagnosis of putative Stargardt disease probands by exome sequencing
BMC Medical Genetics, 2012 Background The commonest genetic form of juvenile or early adult onset macular degeneration is Stargardt Disease (STGD) caused by recessive mutations in the gene ABCA4. However, high phenotypic and allelic heterogeneity and a small but non-trivial amount
Strom Samuel P +8 more
doaj +1 more source
Adverse Events of Saffron (Crocus sativus L.): Systematic Review of Current Evidence
Health Science Reports, Volume 9, Issue 5, May 2026.ABSTRACT Background Crocus sativus L., commonly known as saffron, is a widely used spice with a rich history of culinary and medicinal applications. This systematic review aims to compile human data from studies on monopreparations of C. sativus, including stigma powder and other extracts, to evaluate their safety.
Fatemeh Sadat Hasheminasab +3 more
wiley +1 more source
A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease
JCI Insight, 2022 Here, we describe affected members of a 2-generation family with a Stargardt disease–like phenotype caused by a 2–base pair deletion insertion, c.1014_1015delGAinsCT;p.(Trp338_Asn339delinsCysTyr), in BEST1.
Masha Kolesnikova +10 more
doaj +1 more source
Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald +10 more
wiley +1 more source
Conférences de Mme Janice Stargardt
, 1987 Stargardt Janice. Conférences de Mme Janice Stargardt. In: École pratique des hautes études, Section des sciences religieuses. Annuaire. Tome 96, 1987-1988. 1987. pp.
Stargardt, Janice
core
Enfermedad de stargardt o degenaración macular de stargardt [PDF]
, 2014 La degeneración macular de Stargardt es considerada una enfermedad rara pues se presenta un caso por cada 10.000 personas (1). Es de transmisión hereditaria de un patrón autosómico recesivo.
Córdova López, Mónica Fabiola
core
Confined to macula, with beaten-metal appearance (discontinuous, as opposed to classic appearance); a discontinuous ring of flecks around fovea, about 1 disc diameter (DD). The electrooculogram (EOG) and electroretinogram (ERG) are normal.
Tripathy K, Kaur K.
europepmc +4 more sources
Organoids for Metabolic Disease Modeling
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita +2 more
wiley +1 more source
Functional Analysis of Retinal Flecks in Stargardt Disease [PDF]
, 2012 To evaluate visual function of flecked areas in a series of patients with Stargardt disease (STGD) and compare them with adjacent non flecked ...
Tsang, Stephen H +8 more
core +1 more source