Medical College of Wisconsin
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Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. J Opt Soc Am A Opt Image Sci Vis 2007 May;24(5):1438-47 PMID: 17429491 PMCID: PMC2082754

Pubmed ID

17429491

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.

Author List

Baraas RC, Carroll J, Gunther KL, Chung M, Williams DR, Foster DH, Neitz M

Author

Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin




Scopus

2-s2.0-34249680841   74 Citations

MESH terms used to index this publication - Major topics in bold

Adult
Color Vision Defects
Female
Genetic Predisposition to Disease
Humans
Lenses
Male
Middle Aged
Retinitis Pigmentosa
Retinoscopes
Retinoscopy
Rod Opsins
jenkins-FCD Prod-353 9ccd8489072cb19f5b9f808bb23ed672c582f41e