Genetic Diagnosis

Molecular diagnostic yields approach or exceed 60–70% in many IRD cohorts. IRDs are difficult to diagnose definitively because many conditions share overlapping phenotypic features, which can cause misdiagnosis or delayed identification. Early molecular diagnosis is critical for selecting patients for gene-specific or mutation-specific therapies and for clinical trial recruitment. Next-generation sequencing, whole-exome sequencing, and whole-genome sequencing have improved identification of causative IRD variants. Mutation-specific approaches under development include CRISPR/Cas9 gene editing for CEP290-related LCA10 and exon-skipping antisense oligonucleotides targeting USH2A mutations.