Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Retinal Vessels Whitening in Retinitis Pigmentosa.
Retina
January 2025
Shiley Eye Institute, University of California, San Diego, CA, USA.
Purpose: To characterize retinal vessel whitening (RVW) in Retinitis Pigmentosa (RP).
Methods: Single-center cross-sectional study. Review of clinical notes of clinically confirmed RP patients was performed followed by grading ultra-widefield imaging.
Is Charles Bonnet Syndrome a Harbinger of Neurocognitive Disorder With Lewy Bodies? A Clinical Conundrum.
J Psychiatr Pract
January 2025
Department of Psychiatry, Centre for Addiction Medicine, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
Charles Bonnet syndrome (CBS) is a clinical condition in which patients with visual impairment experience visual hallucinations (VH) in the presence of clear consciousness. It typically occurs in elderly people and confuses clinicians with multiple differential diagnoses due to VH, which can be present in a variety of clinical conditions ranging from psychosis to neurocognitive disorders (eg, neurocognitive disorder with Lewy bodies). In the latter, the concomitant presence of cognitive decline and parkinsonism aids the diagnosis.
View Article and Find Full Text PDFGenetic context modulates aging and degeneration in the murine retina.
Mol Neurodegener
January 2025
The Jackson Laboratory, Bar Harbor, ME, 04609, USA.
Background: Age is the principal risk factor for neurodegeneration in both the retina and brain. The retina and brain share many biological properties; thus, insights into retinal aging and degeneration may shed light onto similar processes in the brain. Genetic makeup strongly influences susceptibility to age-related retinal disease.
View Article and Find Full Text PDFThe U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.
View Article and Find Full Text PDFGeneration of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12.
Stem Cell Res
January 2025
UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK. Electronic address:
A human induced pluripotent stem cell (hiPSC) line (UCLi025-A) was generated from dermal fibroblast cells from a 42-year-old female donor with polyneuropathy, hearing loss, retinitis pigmentosa and early-onset cataract (PHARC) syndrome carrying a homozygous nonsense variant in ABHD12 c.193C>T, p.(Arg65*).
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!