The case of a 56-year-old female patient is presented; she was hospitalized for decreased vision of both eyes, discrete hemeralopia, vertigo, right hypoacusis and occipital headache. The eye fundus examination showed lesions of retinitis pigmentosa in the inferotemporal sector and decreased arterial calibre. The patient was diagnosed neurologically as a right acoustic neurinoma with pontocerebellar syndrome. No other cases with the same symptomatology were noticed in the patient's family.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
The 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 PDFLongitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study.
Ophthalmol Sci
November 2024
Faculty of Medicine, Dentistry and Health Sciences, Department of Optometry and Vision Sciences, University of Melbourne, Parkville, Australia.
Purpose: Emerging clinical trials for inherited retinal disease (IRD) require an understanding of long-term progression. This longitudinal study investigated the genetic diagnosis and change in retinal structure and function over 10 years in rod-cone dystrophies (RCDs).
Design: Longitudinal observational follow-up study.
Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa.
PLoS Biol
January 2025
Department of Pharmacology and Cleveland Center for Membrane and Structural Biology, School of Medicine, Case Western Reserve University, Cleveland, Ohio, United States of America.
Pathogenic mutations that cause rhodopsin misfolding lead to a spectrum of currently untreatable blinding diseases collectively termed retinitis pigmentosa. Small molecules to correct rhodopsin misfolding are therefore urgently needed. In this study, we utilized virtual screening to search for drug-like molecules that bind to the orthosteric site of rod opsin and improve its folding and trafficking.
View Article and Find Full Text PDFUnraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
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!