Table 1 Case classification
From: Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
Solved cases |
 Autosomal dominant |
  Pathogenic or likely pathogenic variant in heterozygous state |
 Autosomal recessive |
  Pathogenic or likely pathogenic variant in homozygous or compound heterozygous state |
  Pathogenic or likely pathogenic variant in heterozygous state and a VUS in the other AR allele, plus clinical correlation |
 X-linked |
  Pathogenic or likely pathogenic variant in hemizygous or heterozygous state, plus clinical correlation |
Partially solved |
 Pathogenic or likely pathogenic variant in heterozygous state in an AR allele, plus clinical correlation |
Suspected causal VUS |
 VUS with clinical correlation |
Unsolved |
 No pathogenic or likely pathogenic variants. VUS without clinical correlation |