P265: Exploring ophthalmological diagnoses in the Undiagnosed Diseases Network: Insights and implications

Inherited ocular diseases are characterized by numerous conditions, including inherited retinal disorders (IRDs) and congenital ocular malformations. These conditions can present as non-syndromic or syndromic, and identifying the genetic causes of these conditions is complicated by allelic and locus heterogeneity. Access to genome sequencing (GS) is limited for individuals with these phenotypes and is often pursued after gene panels and exome sequencing (ES). However, GS is known to resolve cases by addressing non-coding/structural variants, poor gene coverage missed by exon-based testing and mitochondrial genome analysis.