Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials.

observed that ARB patients carrying null alleles had an earlier onset of disease and a faster decline in VA compared to noncarriers, although these differences did not reach statistical significance.[ 22 ] This led the authors to speculate that, rather than ARB representing the null phenotype, affected individuals have a significant reduction in BEST1 activity, which can range from total absence in truly nullizygous patients to partial functional preservation in those with at least one hypomor

also in 111,027 other papers