Faculty Collaboration Database

Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin. Proc Natl Acad Sci U S A 2009 Dec 08;106(49):20948-53

Date

11/26/2009

Pubmed ID

19934058

Pubmed Central ID

PMC2791574

DOI

10.1073/pnas.0910128106

Scopus ID

2-s2.0-73949111344 (requires institutional sign-in at Scopus site)   63 Citations

Abstract

Missense mutations in the cone opsins have been identified as a relatively common cause of red/green color vision defects, with the most frequent mutation being the substitution of arginine for cysteine at position 203 (C203R). When the corresponding cysteine is mutated in rhodopsin, it disrupts proper folding of the pigment, causing severe, early onset retinitis pigmentosa. While the C203R mutation has been associated with loss of cone function in color vision deficiency, it is not known what happens to cones expressing this mutant opsin. Here, we used high-resolution retinal imaging to examine the cone mosaic in two individuals with genes encoding a middle-wavelength sensitive (M) pigment with the C203R mutation. We found a significant reduction in cone density compared to normal and color-deficient controls, accompanying disruption in the cone mosaic in both individuals, and thinning of the outer nuclear layer. The C203R mosaics were different from that produced by another mutation (LIAVA) previously shown to disrupt the cone mosaic. Comparison of these mosaics provides insight into the timing and degree of cone disruption and has implications for the prospects for restoration of vision loss associated with various cone opsin mutations.

Author List

Carroll J, Baraas RC, Wagner-Schuman M, Rha J, Siebe CA, Sloan C, Tait DM, Thompson S, Morgan JI, Neitz J, 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

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

Adult
Amino Acid Substitution
Arginine
Cell Count
Chromosomes, Human, X
Color Vision
Cone Opsins
Cysteine
Diagnostic Techniques, Ophthalmological
Female
Humans
Male
Mosaicism
Mutation
Retina
Retinal Cone Photoreceptor Cells
Young Adult