However, in F1 the index patient presented with ESCS, which is more related to NR2E3. Interesting, and although RHO: p.G51A has been involved in retinitis pigmentosa (Macke et al., 1993), GnomAD mentions a frequency of 0.1% in the general population and ClinVar classifies this variant as benign/likely benign. Here, RHO is linked to retinitis pigmentosa.