Table 1

Details of families participating in study

FamilyNo examinedRP2 or RP3 (classification method) Myopia in affected males (low <−5, high >−5)Early onset night blindness in affected males (<10 years)Tapetal reflex in carriersEvidence of cone dystrophy affected males
malefemale
123cRP2(B)NoneNoNoneNo (ERG)
211cRP2(B)NoneYesYesNo
311c, 1ncRP2(B)HighYesNoneNo
412cRP3(B)LowNoYesYes
513cRP3(B)LowYesYesYes
611cRP3(B)LowYesYesYes
723c, 2ncRP3(HA)NoneNoNoneYes
812cRP3(HA)NoneYesYesNo (ERG)
912cRP3(HE)LowYesNoneNo
1013cRP3(B)NoneYesNoneUnclear
1111c, 1ncRP3(HE)LowYesNoneYes
1211cRP3(HA)NoneNoNoneNo
1311cRP3(B)LowYesNoneNo
1419cRP3(B)LowYesYesUnclear
  • c = carrier females, nc = non-carrier females. All males are affected.

  • Classification method: B = genetic loci determined by both heterogeneity analysis and haplotype analysis; HA = genetic loci determined by haplotype analysis only; HE = genetic loci determined by hetergeneity analysis only.

  • ERG indicates early electrodiagnostic testing.