Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity

► The molecular analysis of an atypical form of retinitis pigmentosa is presented. ► A rhodopsin missense mutation was identified in this familial case. ► Intrafamilial clinical heterogeneity was observed among family members. ► The benefits of phenotypically-guided molecular screening are stressed.