Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India

Abstract

Despite inherent limitations in clinical testing, the diagnostic rate across the two cohorts (52%) was similar to the 50%-65% diagnostic rate in the literature. However, the diagnostic rate was lower in the US cohort and appears partly explained by racial background. The high rate of consanguinity in the Indian population is reflected in the high rate of homozygosity for pathogenic mutations and may have implications for population level screening and genetic counseling. Clinical laboratories may note diagnostic rates that differ from the literature, due to factors such as heterogeneity in racial background or consanguinity rates in the populations being tested. This information may be useful for post-test counseling.