Article
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Clinical genetics - 1 Jul 2025
Yavas Cuneyd, Arvas Yunus Emre, Dogan Mustafa, Gezdirici Alper, Aslan Elif Sibel, Karapapak Murat, Barıs Savas, Eroz Recep
Abstract excerpt
Inherited retinal diseases (IRDs) constitute a heterogeneous group of clinically and genetically diverse conditions, standing as a primary cause of visual impairment among individuals aged 15-45, with an estimated incidence of 1:2000. Our study aimed to comprehensively evaluate the genetic variants underlying IRDs in the Turkish population. This study included 50 unrelated Turkish IRD patients and their families....
Topics
- Humans
- Exome Sequencing
- Male
- Female
- Adult
- Adolescent
- Retinal Diseases
- Pedigree
- Turkey
- Middle Aged
- Young Adult
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing
- Mutation