The five identified HDs were validated by PCR and/or Sanger sequencing in the following patients: first, an HD of the first two exons of the RAX2 gene [35] was identified in two reportedly unrelated subjects (a female and a male), who had a clinical diagnosis of autosomal recessive retinitis pigmentosa (Figure 1). The gene discussed is RAX2; the disease is autosomal recessive retinitis pigmentosa.