Article
Whole genome sequencing of 10 families with optic disc drusen.
Ophthalmic genetics - 1 Apr 2025
Steensberg Alvilda H, Ovens Chris, Fraser Clare L, Malmqvist Lasse, Bertelsen Mette, Grønskov Karen, Hamann Steffen
Abstract excerpt
INTRODUCTION: Optic disc drusen (ODD) are believed to have a genetic predisposition, with autosomal dominant inheritance pattern with incomplete penetrance suggested through family pedigree analysis. ODD prevalence is higher in certain genetic disorders, such as pseudoxanthoma elasticum and retinitis pigmentosa. This study aimed to identify candidate genes potentially involved in the development of ODD. METHODS:...
Topics
- Humans
- Male
- Female
- Optic Disk Drusen
- Pedigree
- Adult
- Middle Aged
- Whole Genome Sequencing
- Polymorphism, Single Nucleotide
- Genetic Predisposition to Disease
- Tomography, Optical Coherence
- Aged
- Young Adult
- Adolescent