PDE6A and retinitis pigmentosa 1: Genetic testing identified a homozygous disease-causing variant in <i>TYR</i> c.1467dup, p. (Ala490Cysfs*20) causing OCA, and a homozygous pathogenic variant c.304C > A, p. (Arg102Ser) in <i>PDE6A</i> causing autosomal recessive RP.<h4>Conclusions and importance</h4>This is the first report of a patient with OCA and RP.