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

ABSTRACT:

Background

Studies evaluating next-generation sequencing (NGS) for retinal disorders may not reflect clinical practice. We report results of retrospective analysis of patients referred for clinical testing at two institutions (US and India).

Methods

This retrospective study of 131 patients who underwent clinically validated targeted NGS or exome sequencing for a wide variety of clinical phenotypes categorized results into a definitive, indeterminate, or negative molecular diagnosis.

Results

A definitive molecular diagnosis (52%) was more common in the India cohort (62% vs. 39%, p = .009), while an indeterminate molecular diagnosis occurred only in the US cohort (12%). In the US cohort, a lower diagnostic rate in Hispanic, non-Caucasians (23%) was seen compared to Cauc

SUBMITTER: Yohe S 

PROVIDER: S-EPMC7005662 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature