Proband 42, a 25-year-old female, with bilateral severe prelingual HI, bilateral reduced vision and nyctalopia starting at the age of 7 years, macular atrophy, diffuse retinal atrophy and pigmentary changes displayed a homozygous splice mutation, USH2A c.11389 + 3A>T (Table 1), which has been associated with retinal dystrophy and USH2A. The gene discussed is USH2A; the disease is Retinal dystrophy.