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Table 1 Clinical details of 168 Korean patients with inherited retinal degeneration

From: Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

Clinical details    n (%)
Clinical diagnosis Photoreceptor disease Retinitis pigmentosa 102 (60.4%)
   Cone and cone-rod dystrophy 22 (13.1%)
   Usher syndrome 3 (1.8%)
   Congenital stationary night blindness 2 (1.2%)
   Leber congenital amaurosis 2 (1.2%)
   Bardet–Biedl syndrome 1 (0.6%)
   Joubert syndrome 1 (0.6%)
  Macular disease Stargardt macular dystrophy 13 (7.7%)
   Vitelliform macular dystrophy 11 (6.5%)
   North Carolina macular dystrophy 1 (0.6%)
   Other macular dystrophy 8 (4.8%)
  Choroideraemia   2 (1.2%)
Inheritance pattern Autosomal recessive   67 (39.9%)
  Autosomal dominant   35 (20.8%)
  X-linked   6 (3.6%)
  Simplex   60 (35.7%)