Purpose: to show the manner of diagnose of this syndrome and to evaluate the possibilities of treatment MATERIAL AND METHOD--there are shown: --ophthalmological and ENT clinical examination --visual field test--adaptometry--audiometry --impedance--auditive evoked potentials--cataract extraction (phacoemulsification).
Results: After cataract extraction the visual acuity increase.
Conclusions: For the diagnosis we need both the diagnosis of retinitis pigmentosa and neurosensorial deafness. For the certainty of the diagnosis genetic tests are required. The treatment of associate ocular pathology may increase the visual status.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Syndromic Retinitis Pigmentosa: A Narrative Review.
Vision (Basel)
January 2025
Sztárai Institute, University of Tokaj, 3950 Sárospatak, Hungary.
Retinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP. In these cases, RP includes systemic symptoms impacting other organs, complicating diagnosis and management. This review highlights key systemic syndromes linked with RP, such as Usher, Bardet-Biedl, and Alström syndromes, focusing on genetic mutations, inheritance, and clinical symptoms.
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 PDFSyndromic Retinitis Pigmentosa.
Prog Retin Eye Res
December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFPredicting post-COVID-19 condition in children and young people up to 24 months after a positive SARS-CoV-2 PCR-test: the CLoCk study.
BMC Med
November 2024
Division of Surgery & Interventional Science, Faculty of Medical Sciences, University College London, London, WC1E 6BT, UK.
Background: Predicting which children and young people (CYP) are at the highest risk of developing post-COVID-19 condition (PCC) could improve care pathways. We aim to develop and validate prediction models for persistent PCC up to 24 months post-infection in CYP.
Methods: CYP who were PCR-positive between September 2020 and March 2021, with follow-up data up to 24-months post-infection, were analysed.
Fine-scale genetic structure and rare variant frequencies.
PLoS One
November 2024
Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Saguenay, Québec, Canada.
In response to the current challenge in genetic studies to make new associations, we advocate for a shift toward leveraging population fine-scale structure. Our exploration brings to light distinct fine-structure within populations having undergone a founder effect such as the Ashkenazi Jews and the population of the Quebec' province. We leverage the fine-scale population structure to explore its impact on the frequency of rare variants.
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!