Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

ABSTRACT: Purpose: Describing the clinical and genetic features of an ethnically heterogeneous group of (inherited retinal diseases) IRD patients from different underrepresented countries, referring to specialized Italian Hospitals, and expanding the epidemiological spectrum of the IRD in understudied populations. Methods: The patients' phenotypes underwent were characterized by exhaustive ophthalmological examinations, including morpho-functional testing. Genetic testing was performed using next-generation sequencing (NGS) and gene sequencing panels targeting a specific set of genes, Sanger sequencing and-when necessary-multiplex ligation-dependent probe amplification (MLPA) to better identify the genotype. When possible, segregation analysis was performed in order to confirm unsolved

SUBMITTER: Maltese PE 

PROVIDER: S-EPMC9274138 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature