Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

WES/WGS-based 51-gene virtual panel beyond *OPA1* and mitochondrial DNA

The diagnostic yield of a WES/WGS-based 51-gene virtual panel plus mitochondrial DNA was assessed in 62 partially pre-screened patients with hereditary optic atrophy. A genetic diagnosis was established in 21 patients (33.9%), with 57.1% linked to OPA1 and 42.9% to other genes (WFS1, ACO2, NR2F1, UCHL1, CACNA1F, COQ2). In most non-OPA1 cases, the diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention. The authors conclude that broad WES/WGS testing should be part of the diagnostic workup for suspected hereditary optic atrophy.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The paper makes a sober but useful case for shifting from a targeted-panel logic to broad WES/WGS analysis in optic atrophy — precisely the diagnostic trajectory we advocate. The fact that nearly half of solved cases lie outside OPA1 and frequently reveal syndromic forms justifies the pan-genomic approach. A confirmatory rather than innovative study, but aligned with tomorrow's practice.