Being able to see the beauty of this world is a wonderful thing unfortunately unavailable to people with inherited blindness. In this issue of PLOS Biology, Mercey and colleagues present optimized expansion microscopy for retinal tissue, which represents a huge step forward in our ability to study these blinding conditions.
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http://dx.doi.org/10.1371/journal.pbio.3001672 | DOI Listing |
PLoS One
December 2024
Department of Ophthalmology, Flinders Medical and Health Research Institute, Flinders University, Adelaide, SA, Australia.
Glaucoma is the leading cause of irreversible blindness with early detection and intervention critical to slowing disease progression. However, half of those affected are undiagnosed. This is largely due to the early stages of disease being asymptomatic; current population-based screening measures being unsupported; and a lack of current efficient prediction models.
View Article and Find Full Text PDFJCI Insight
December 2024
Department of Ophthalmology and Roger and Karalis Johnson Retina Center, University of Washington, Seattle, United States of America.
Background: Current clinical sequencing methods cannot effectively detect DNA methylation and allele-specific variation to provide parent-of-origin information from the proband alone. Parent-of-origin effects can lead to differential disease and the inability to assign this in de novo cases limits prognostication in the majority of affected individuals with retinoblastoma, a hereditary cancer with suspected parent-of-origin effects.
Methods: To directly assign parent-of-origin in retinoblastoma patients, genomic DNA was extracted from blood samples for sequencing using a programmable, targeted single-molecule long-read DNA genomic and epigenomic approach.
Retin Cases Brief Rep
January 2025
Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.
Purpose: Best vitelliform macular dystrophy is an inherited macular dystrophy associated with over 250 pathogenic variants of the Bestrophin-1 ( BEST1 ) gene. Although several types of lesions of best vitelliform macular dystrophy are well-described, reports of phenotypic variations associated with rare genetic variants are limited.
Methods: This was a retrospective case series performed in 2021 at a tertiary eye care center.
Transl Vis Sci Technol
December 2024
Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Inherited retinal degeneration (IRD) disease and age-related macular degeneration (AMD) are leading causes of irreversible vision loss and blindness. Although significant progress has advanced the field in the past 5 years, significant challenges remain. The current article reviews the accomplishments and research advances that have fueled the development of treatments for patients with IRD and AMD, including the first approved gene-augmentation treatment for RPE65-related retinal degeneration and complement inhibition therapies to slow progression of geographic atrophy (GA) in AMD.
View Article and Find Full Text PDFJ Clin Med
December 2024
Vitreoretinal Associates, Gainesville, FL 32607, USA.
With the approval of the first retinal gene therapy, voretigene neparvovec [...
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