A study of 40 patients with congenital eye malformations used a stepwise genetic testing approach — starting with targeted gene panels and progressing to exome sequencing — achieving an overall diagnostic yield of 43%. The research identified POGZ as a candidate gene for congenital eye malformations, alongside several other rare or newly reported gene variants. Diagnostic rates were highest in patients with congenital cataracts, complex eye phenotypes, or additional features beyond the eye. The findings support routine broad-panel genetic testing over narrow phenotype-specific approaches for better diagnosis, prognosis, and genetic counseling.