Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes.

ABSTRACT:

Purpose

Inherited retinal diseases (IRDs), encompassing many clinical entities affecting the retina, are classified as rare disorders. Their extreme heterogeneity made molecular screening in the era before next-generation sequencing (NGS) expensive and time-consuming. Since then, many NGS studies of IRD molecular background have been conducted in Western populations; however, knowledge of the IRD mutational spectrum in Poland is still limited. Until now, there has been almost no comprehensive analysis of this particular population regarding the molecular basis and inheritance of IRDs. Therefore, the purpose of this study was to gain knowledge about the type and prevalence of causative variants in the Polish population.

Methods

We recruited 190 Polish families with non-syndro

SUBMITTER: Tracewska AM 

PROVIDER: S-EPMC8286799 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature