TableĀ 3

Classification of patients according to clinical significance of mutations

Mutated genesGroupAllele 1Allele 2HomoCompound heteroHeteroTotal
LCA/juvenile RP genes1ReportedReported151126
2Novel LOFNovel LOF8513
Novel LOFReported88
Novel LOF11
3Novel missenseNovel missense224
Novel missenseReported33
Novel missenseNovel LOF33
Retinal disease genes inconsistent with initial diagnosis1ReportedReported77
2Novel LOFNovel LOF1*12
3Novel missenseNovel missense44
  • The numbers in the four columns on the right represent the number of patients in each category.

  • *This patient carried a hemizygous mutation.

  • Compound hetero, compound heterozygous; Hetero, Heterozygous; Homo, homozygous; LCA, Leber congenital amaurosis; RP, retinitis pigmentosa.