Stargardt-like macular dystrophy (STGD3, MIM 600110) and autosomal dominant macular dystrophy (adMD) are inherited forms of macular degeneration characterized by decreased visual acuity, macular atrophy and extensive fundus flecks. Genetic mapping data suggest that mutations in a single gene may be responsible for both conditions, already known to bear clinical resemblance. Here we limit the minimum genetic region for STGD3 and adMD to a 0.6-cM interval by recombination breakpoint mapping and identify a single 5-bp deletion within the protein-coding region of a new retinal photoreceptor-specific gene, ELOVL4, in all affected members of STGD3 and adMD families. Bioinformatic analysis of ELOVL4 revealed that it has homology to a group of yeast proteins that function in the biosynthesis of very long chain fatty acids. Our results are therefore the first to implicate the biosynthesis of fatty acids in the pathogenesis of inherited macular degeneration.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/83817 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Comparative Analysis of Patient-Reported Outcome Measures in Manual Small-Incision Cataract Surgery Versus Phacoemulsification for Brown Cataracts.
Cureus
December 2024
Department of Ophthalmology, Kalinga Institute of Medical Sciences, Bhubaneswar, Bhubaneswar, IND.
Objective The objective of this study is to compare patient-reported outcome measures using the Catquest Questionnaire in patients undergoing phacoemulsification (Phaco) versus manual small-incision cataract surgery (MSICS). Materials and methods This descriptive cross-sectional study included patients aged 40 years and older with cataracts classified as nuclear sclerosis (NS) grade 3 or higher. Demographic details were recorded and a comprehensive ophthalmological exam was done.
View Article and Find Full Text PDFTo assess the repeatability of a microperimetry methodology for quantifying visual function changes in the junctional zone of eyes with geographic atrophy (GA) in the clinical trial context. A post hoc analysis of the OAKS phase III trial was conducted, which enrolled patients with GA secondary to age-related macular degeneration. Microperimetry using a standard 10-2 fovea centered grid was performed at baseline and follow-up visits.
View Article and Find Full Text PDF"Triple and Plan" (TriPla) regimen for long lasting new generation intravitreal anti-VEGF.
Eur J Ophthalmol
January 2025
School of Medicine, Vita-Salute San Raffaele University, Milan, Italy.
Intravitreal injections of anti-vascular endothelial growth factor (anti-VEGF) medications are the primary treatment for neovascular age-related macular degeneration (nAMD). However, frequent administrations pose significant burdens on patients, healthcare providers, and systems. The treat-and-extend (T&E) regimen, which adjusts treatment intervals based on patient response, aims to reduce injection frequency while maintaining disease control.
View Article and Find Full Text PDFPhosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDFUndaria pinnatifida fucoidan extract inhibits activation of the NF-κB signaling pathway by herpes simplex virus type 1 and prevents amyloid-β peptide synthesis in retinal pigment epithelium cells.
Arch Virol
January 2025
Departamento de Biología, Bioquímica y Farmacia, Universidad Nacional del Sur-Bahía Blanca, Buenos Aires, Argentina.
Neurodegenerative pathologies such as age-related macular degeneration currently have no cure or effective treatment. In this type of disease, the presence of amyloid-β peptides, oxidative stress, and inflammation trigger dysregulation of retinal pigment epithelial cells and progression toward the death of these cells, resulting in a loss of vision. The production of amyloid-β peptides, oxidative stress, and inflammation can be triggered in response to viral infections.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!