One PRPH2 missense variant, c.658C>T/p.R220W, identified in an MD patient in the digenic form was also detected in a male over 30 years old who was diagnosed with early-onset high myopia, but no macular dystrophy was observed during fundoscopy and OCT examination, which means it may be caused by other high-myopia-associated causative genes. The gene discussed is PRPH2; the disease is Menkes disease.