title: Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency.
abstract: Tritan color-vision deficiency is an autosomal dominant disorder associated with mutations in the short-wavelength-sensitive- (S-) cone-pigment gene. An unexplained feature of the disorder is that individuals with the same mutation manifest different degrees of deficiency. To date, it has not been possible to examine whether any loss of S-cone function is accompanied by physical disruption in the cone mosaic. Two related tritan subjects with the same novel mutation in their S-cone-opsin gene, but different degrees of deficiency, were examined. Adaptive optics was used to obtain high-resolution retinal images, which revealed distinctly different S-cone mosaics consistent with their discrepant phenotypes. In addition, a significant disruption in the regularity of the overall cone mosaic was observed in the subject completely lacking S-cone function. These results taken together with other recent findings from molecular genetics indicate that, with rare exceptions, tritan deficiency is progressive in nature.
authors: Department of Optometry and Visual Science, Buskerud University College, Kongsberg, Norway. rigmor.baraas@hibu.no
authors: Rigmor C
authors: RC
authors: Baraas
authors: Joseph
authors: J
authors: Carroll
authors: Karen L
authors: KL
authors: Gunther
authors: Mina
authors: M
authors: Chung
authors: David R
authors: DR
authors: Williams
authors: David H
authors: DH
authors: Foster
authors: Maureen
authors: M
authors: Neitz
mesh_terms: D000328:Adult; D003117:Color Vision Defects / Q000235:genetics* / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007909:Lenses; D008297:Male; D008875:Middle Aged; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology*; D042261:Retinoscopes; D042262:Retinoscopy / Q000379:methods*; D017299:Rod Opsins / Q000235:genetics*
chemical_list: D017299:Rod Opsins