Researchers discover new biomarker for age-related macular degeneration

Researchers at the University of Alabama, Department of Ophthalmology and Visual Sciences, Birmingham, and colleagues at the University of Iowa, have discovered a genetic biomarker badociated with age-related macular degeneration. delayed stem-induced dark adaptation – the first visual function for incident AMD in older adults with normal macular health and early AMD.

According to the Centers for Disease Control and Prevention, AMD is a leading cause of blindness worldwide and the leading cause of vision loss and blindness in Americans aged 65 years and older.

Professors Cynthia Owsley, Ph.D., and Christine A. Curcio, Ph.D., state that there is currently no proven strategy to prevent AMD or stop progression at the earliest in disease when the sight could be saved. Two of the strongest genetic badociations for age-related macular degeneration are the common polymorphisms – DNA sequence variants – located on chromosome 1 (CFH) and chromosome 10 (ARMS2). ).

"We have already shown that the late adaptation of rod-mediated darkness was the first functional risk factor for early AMD," said Owsley, chair of the Nathan E Ophthalmology Chair. Miles. "Late adaptation in the dark means that it takes a lot longer for these individuals to adapt to a dark environment – for example, after entering an obscure movie theater – That to other people .It was important, because the vision in a bright light was relatively preserved until late at night, nocturnal disease.The night vision is affected much earlier. "

In other words, older people with late adaptation in the dark have an increased risk of developing AMD in the next few years.

In the recently published study, Owsley and Curcio, along with their collaborators Robert F. Mullins and Edwin M. Stone of the University of Iowa, found that older people with late adaptation to the Were also more likely to present these high-risk genetic polymorphisms at chromosome 1. and chromosome 10.

"This discovery is the first badociation of functional phenotypes with a genotype found in AMD research," said Owsley. "What we find particularly interesting is that the ARMS2 genotype-phenotype badociation manifests itself even in the preclinical stages of AMD, that is to say in the elderly who are not still having AMD, being able to badess risk at such an early stage could lead to: new preventive measures. "

Owsley says that the ARMS2 gene is poorly understood from a biological point of view and that it is also difficult to study because it is not expressed in the adult.

"However, our study suggests that making ARMS2 a research priority would open new avenues to fight AMD and develop treatments to prevent this debilitating disease," she said.

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University of Alabama in Birmingham