Here, we show that LVAVA haplotype of the OPN1LW gene and MVAVA haplotype of the OPN1MW gene cause apparently nonsyndromic high myopia in young patients but lead to progressive cone-rod dystrophy with deuteranopia and protanopia in middle-aged patients corresponding to a previously unknown disease course.
In eyes with severe CVD, the mean L, M and S-CCT scores were, respectively, 31.5 ± 18.3, 86.0 ± 12.6 and 98.0 ± 6.3 in patients with protanopia; 92.8 ± 10.5, 50.8 ± 19.6 and 97.8 ± 5.2 in patients with deutanopia; and 99.4 ± 1.7, 98.3 ± 5.0 and 99.4 ± 1.7 in controls.
Here, we show that LVAVA haplotype of the OPN1LW gene and MVAVA haplotype of the OPN1MW gene cause apparently nonsyndromic high myopia in young patients but lead to progressive cone-rod dystrophy with deuteranopia and protanopia in middle-aged patients corresponding to a previously unknown disease course.
Genomic DNA from five pedigrees (with high myopia and either protanopia or deuteranopia) that mapped to Xq28 were screened for TEX28 copy number variations (CNVs) and sequence variants.