Open AccessTritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency
Author(s) -
Maureen Neitz,
Elise Dees Krekling,
Lene A. Hagen,
Hilde R. Pedersen,
Jessica S. Rowlan,
Rachel Barborek,
Jay Neitz,
Adam Crain,
Rigmor C. Baraas
Publication year - 2020
Publication title -
journal of the optical society of america. a, optics, image science, and vision./journal of the optical society of america. a, online
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.803
H-Index - 158
eISSN - 1520-8532
pISSN - 1084-7529
DOI - 10.1364/josaa.381919
Subject(s) - rna splicing , haploinsufficiency , genetics , color vision , trichromacy , mutation , biology , gene , phenotype , rna , optics , physics
Here we present evidence implicating disrupted RNA splicing as a potential cause of inherited tritan color vision. Initially we tested 51 subjects for color vision deficiencies. One made significant tritan errors; the others were classified as normal trichromats. The putative tritan subject was the only one of the 51 subjects found to be heterozygous for an OPN1SW gene mutation that disrupts RNA splicing in an in vitro assay. In order to gather further support for the role of the splicing mutation in tritan color vision, the putative tritan subject's mother and sister were examined. They also made tritan errors and had the same OPN1SW gene mutation.