Scientists from the University of Pennsylvania have pinpointed a number of abnormalities that give rise to impairments seen in vitelliform macular dystrophy, or Best disease, setting them up to test a gene therapy to treat the disease.
According to researchers, one of the main puzzles surrounding Best disease was why vision loss would occur in the macula and fovea, even though the BEST1 gene was mutated in RPE throughout the retina. Using an animal model of Best disease in combination with biochemical and optical assays for their research, researchers reportedly found the predilection of the macula to develop lesions had to do with differences in the supporting structures of rods versus cones.
For the future, the scientists plan to continue their research, as well as develop and test a gene therapy approach to treating bestrophinopathies.
The research was recently published in the journal Progress in Retinal and Eye Research.
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Source: University of Pennsylvania