ZNF513 and autosomal recessive retinitis pigmentosa: However, there are few reports on the physiological functions of ZNF513. Li et al. reported that homozygous mutation of ZNF513 (c.T1015C, p.C339R) can cause autosomal-recessive retinitis pigmentosa,21 but no retinopathy was found in the homozygous mutant mice with Zfp513 p.R250W in our study, which shows that variants at different sites of ZNF513 display clinical heterogeneity.