AI Article Synopsis
- The paper looks at how inherited retinal diseases (IRD) are diagnosed and treated in the Asia-Pacific region.
- They surveyed 36 centers about their practices, including how they collect patient information and provide help for low vision.
- The results showed there are important gaps, like many centers not having a database for patients, not enough genetic counselors, and a need for better support for low-vision rehabilitation.
Article Abstract
Purpose: The objective of this paper is to shed light on the current landscape of genotyping practices, phenotyping practices and availability of essential vision rehabilitation management for inherited retinal diseases (IRD) in the Asia-Pacific (APAC) Region.
Methods: The 62-item questionnaire was distributed electronically via email. The questions covered five domains: (1) structure of the IRD service and registry/database; (2) genotyping practices; (3) genetic counselling; (4) deep phenotyping practices; (5) low-vision rehabilitation services.
Results: The survey was completed by 36 of 45 centres in twelve countries and regions in APAC. Among these centres, 42 % reported managing more than 1000 patients. Notably, 39 % of centres lack an IRD database or registry, and 44 % of centres have tested less than one-quarter of their IRD patients. The majority of centres (67 %) do not have genetic counsellors. While there was consistency in the imaging-based investigations, there was marked heterogeneity for functional testing using electrophysiology and formal perimetry. Only 34 % of centres confirmed the availability of access to low-vision assistive devices.
Conclusions: This study reveals several critical gaps in managing IRDs in the APAC region. These include the lack of IRD database/registry in one-third of centres, a substantial proportion of patients remaining genetically undiagnosed, and limited availability of genetic counsellors. The findings also underscore a need to harmonise investigations for evaluating retinal function and identify areas for improvement in the provision of low-vision rehabilitation services.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.apjo.2024.100098 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Modifiers and their impact on inherited retinal diseases: a review.
Ophthalmic Genet
January 2025
Department of Small Animal Clinical Sciences, Michigan State University, East Lansing, Michigan, USA.
Background: The phenotypic variability of inherited conditions can be due to several factors including environmental, epigenetic, and genetic. One of those genetic factors is the presence of modifying loci which alter the phenotypic expression of a primary disease or phenotype-causing variant. Modifiers are known to affect penetrance, dominance, expressivity, and pleiotropy of disease.
View Article and Find Full Text PDFStargardt disease is a currently untreatable, inherited neurodegenerative disease that leads to macular degeneration and blindness due to loss-of-function mutations in the ABCA4 gene. We have designed a dual adeno-associated viral vector encoding a split-intein adenine base editor to correct the most common mutation in ABCA4 (c.5882G>A, p.
View Article and Find Full Text PDFPotential guidelines for cataract surgery and rehabilitation in visually impaired patients: Literature analysis.
Aging Med (Milton)
December 2024
Department of Sense Organs, Faculty of Medicine and Odontology, Rare Retinal Diseases and Ocular Electrophysiology Centre, Umberto I Policlinic Sapienza University of Rome Rome Italy.
Cataracts can reduce the quality of vision in visually impaired patients who already have a visual impairment. The most common causes of low vision include age-related macular degeneration (AMD), high myopia (HM), diabetic retinopathy (DR), glaucoma (GL), and inherited degenerative ocular diseases. The surgery aims to improve their independence, quality of life, and ability to engage in daily, social, and work activities.
View Article and Find Full Text PDFPhenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
Genes (Basel)
December 2024
Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, University Road, Islamabad 45320, Pakistan.
Background: Leber congenital amaurosis (LCA) is a congenital onset severe form of inherited retinal dystrophy (IRD) and a common cause of pediatric blindness. Disease-causing variants in at least 14 genes are reported to predispose LCA phenotype. LCA is inherited as an autosomal recessive disease.
View Article and Find Full Text PDFExpanding the Clinical Spectrum of Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.
Genes (Basel)
December 2024
The Hereditary Retinal Dystrophies Unit, Ophthalmology Departments at SJD Barcelona Children's Hospital and University Hospital of Bellvitge, 08950 Barcelona, Spain.
: Biallelic pathogenic variants in the gene are typically associated with severe, early-onset inherited retinal dystrophies (IRDs) in both syndromic and non-syndromic forms. This study explores the phenotypic variability of non-syndromic IRDs associated with variants, focusing on two siblings with biallelic variants, one of whom exhibits a remarkably mild phenotype, thereby expanding the clinical spectrum. : Whole-exome sequencing (WES) and mRNA analysis were performed to identify and characterize variants in the siblings.
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!