The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study.

ABSTRACT:

Purpose

Inherited eye diseases (IEDs) are among the main causes of visual impairment and blindness in children and young people worldwide. The objective of our study was to characterize the prevalence and distribution of the most common IEDs and causative genes in our population.

Study design

Retrospective study based on medical records of patients with IEDs who underwent genetic counselling through our multidisciplinary low vision center from 2018 to 2020.

Methods

Data retrieved from medical files included: year of consultation, age, gender, ethnicity, diagnosis, gene variants and mode of inheritance.

Results

228 patients were included in our study. The most common diagnoses were inherited retinal diseases (IRDs) (41.2%) and albinism (32%). In 2018 and 2019 th

SUBMITTER: Kaminer Abargel M 

PROVIDER: S-EPMC11825002 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature