Identifying patterns of refractive error in inherited retinal diseases may improve management and knowledge of genetic ...

Unfortunately, I have been diagnosed many years back with Retinal Dystrophy ( genetic mutation ). The condition has NO ...

CYCLING fundraiser Gerard McCarten travelled to Surrey to meet with Debbie Clarke of The Macular Society. The meeting had been a long time in the making having first met on the phone many months ...

Exegenesis Bio, a clinical stage global gene therapy company is pleased to announce that US FDA has granted Orphan Drug Designation (“ODD”) to EXG110, a novel gene therapy for Fabry disease, a rare ...

Purpose: This study aimed to characterize retinitis pigmentosa associated with the eyes shut homolog gene, which causes hereditary retinal degeneration. Methods: The anatomical and functional findings ...

"We found the treatment is safe, and four of the seven patients showed measurable improvements in vision." RP is caused by as many as 100 different genetic mutations. As retinal cells die off, people ...

sight loss due to a rare genetic macular disease called Sorsby Fundus Dystrophy (SFD). Riding in memory of his late wife, who died October 2023, Gerard set off in October cycling the height of the ...

Duchenne, one of the most severe forms of muscular dystrophy, affects about one out of every 3,600 boys. The inherited rare disease on the X chromosome is caused by a genetic defect and it ...

For instance, in developing treatments for specific genetic retinal diseases like Leber congenital amaurosis, retinal organoids allowed us to study the precise mutation effects in vitro.