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.

© 2007 Optical Society of America

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2006

K. L. Gunther, J. Neitz, and M. Neitz, "A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect," Visual Neurosci. 23, 403-409 (2006).
[CrossRef]

S. Yokoyama, W. T. Starmer, Y. Takahashi, and T. Tada, "Tertiary structure and spectral tuning of UV and violet pigments in vertebrates," Gene 365, 95-103 (2006).
[CrossRef]

2005

H. Hofer, J. Carroll, J. Neitz, M. Neitz, and D. R. Williams, "Organization of the human trichromatic cone mosaic," J. Neurosci. 25, 9669-9679 (2005).
[CrossRef] [PubMed]

N. M. Putnam, H. J. Hofer, N. Doble, L. Chen, J. Carroll, and D. R. Williams, "The locus of fixation and the foveal cone mosaic," J. Vision 5, 632-639 (2005).
[CrossRef]

2004

J. Carroll, M. Neitz, J. Wolfing, D. Gray, J. Neitz, and D. R. Williams, "Different genetic causes of red-green color blindness give rise to different retinal phenotypes as assessed with adaptive optics," Invest. Ophthalmol. Visual Sci. 45, E-Abstract 4341 (2004).

J. Carroll, M. Neitz, H. Hofer, J. Neitz, and D. R. Williams, "Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness," Proc. Natl. Acad. Sci. U.S.A. 101, 8461-8466 (2004).
[CrossRef] [PubMed]

J. W. L. Parry, S. Poopalasundaram, J. K. Bowmaker, and D. M. Hunt, "A novel amino acid substitution is responsible for spectral tuning in a rodent violet-sensitive visual pigment," Biochemistry 43, 8014-8020 (2004).
[CrossRef] [PubMed]

2003

A. Pallikaris, D. R. Williams, and H. Hofer, "The reflectance of single cones in the living human eye," Invest. Ophthalmol. Visual Sci. 44, 4580-4592 (2003).
[CrossRef]

2002

P. R. Kinnear and A. Sahraie, "New Farnsworth-Munsell 100 hue test norms of normal observers for each year of age 5-22 and for age decades 30-70," Br. J. Ophthamol. 86, 1408-1411 (2002).
[CrossRef]

R. E. Stenkamp, S. Filipek, C. A. G. G. Driessen, D. C. Teller, and K. Palczewski, "Crystal structure of rhodopsin: a template for cone visual pigments and other G protein-coupled receptors," Biochim. Biophys. Acta 1565, 168-182 (2002).
[CrossRef]

G. R. Jackson, C. Owsley, and C. A. Curcio, "Photoreceptor degeneration and dysfunction in aging and age-related maculopathy," Aging Res. Rev. 1, 381-396 (2002).
[CrossRef]

Q. V. Hoang, R. A. Linsenmeier, C. K. Chung, and C. A. Curcio, "Photoreceptor inner segments in monkey and human retina: mitochondrial density, optics, and regional variation," Visual Neurosci. 19, 395-407 (2002).
[CrossRef]

J. Carroll, J. Neitz, and M. Neitz, "Estimates of L:M cone ratio from ERG flicker photometry and genetics," J. Vision 2, 531-542 (2002).
[CrossRef]

2001

H. Hofer, P. Artal, B. Singer, J. L. Aragón, and D. R. Williams, "Dynamics of the eye's wave aberration," J. Opt. Soc. Am. A 18, 497-506 (2001).
[CrossRef]

A. Roorda, A. B. Metha, P. Lennie, and D. R. Williams, "Packing arrangement of the three cone classes in primate retina," Vision Res. 41, 1291-1306 (2001).
[CrossRef] [PubMed]

2000

X. J. Zhan and J. B. Troy, "Modeling cat retinal beta-cell arrays," Visual Neurosci. 17, 23-39 (2000).
[CrossRef]

M. Neitz and J. Neitz, "Molecular genetics of color vision and color vision defects," Arch. Ophthalmol. (Chicago) 118, 691-700 (2000).

1999

J. I. Fasick, N. Lee, and D. D. Oprian, "Spectral tuning in the human blue cone pigment," Biochemistry 38, 11593-11596 (1999).
[CrossRef] [PubMed]

A. Kurtenbach, U. Schiefer, A. Neu, and E. Zrenner, "Preretinopic changes in the colour vision of juvenile diabetics," Br. J. Ophthamol. 83, 43-46 (1999).
[CrossRef]

A. Roorda and D. R. Williams, "The arrangement of the three cone classes in the living human eye," Nature 397, 520-522 (1999).
[CrossRef] [PubMed]

L. Galli-Resta, E. Novelli, Z. Kryger, G. H. Jacobs, and B. E. Reese, "Modelling the mosaic organization of rod and cone photoreceptors with a minimal-spacing rule," Eur. J. Neurosci. 11, 1461-1469 (1999).
[CrossRef] [PubMed]

1998

L. T. Sharpe, A. Stockman, H. Jägle, H. Knau, G. Klausen, A. Reitner, and J. Nathans, "Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically measured spectral sensitivities," J. Neurosci. 18, 10053-10069 (1998).
[PubMed]

S. K. Shevell, J. C. He, P. Kainz, J. Neitz, and M. Neitz, "Relating color discrimination to photopigment genes in deutan observers," Vision Res. 38, 3371-3376 (1998).
[CrossRef]

1997

J. Hwa, P. Garriga, X. Liu, and H. G. Khorana, "Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled," Proc. Natl. Acad. Sci. U.S.A. 94, 10571-10576 (1997).
[CrossRef] [PubMed]

J. Liang, D. R. Williams, and D. T. Miller, "Supernormal vision and high-resolution retinal imaging through adaptive optics," J. Opt. Soc. Am. A 14, 2884-2892 (1997).
[CrossRef]

1996

J. Neitz, M. Neitz, and P. M. Kainz, "Visual pigment gene structure and the severity of color vision defects," Science 274, 801-804 (1996).
[CrossRef] [PubMed]

1994

B. C. Regan, J. P. Reffin, and J. D. Mollon, "Luminance noise and the rapid determination of discrimination ellipses in colour deficiency," Vision Res. 34, 1279-1299 (1994).
[CrossRef] [PubMed]

1993

C. A. Curcio, C. L. Millican, K. A. Allen, and R. E. Kalina, "Aging of the human photoreceptor mosaic: evidence for selective vulnerability of rods in central retina," Invest. Ophthalmol. Visual Sci. 34, 3278-3296 (1993).

P. D. Spear, "Neural bases of visual deficits during aging," Vision Res. 33, 2589-2609 (1993).
[CrossRef] [PubMed]

1992

C. Diaz-Araya and J. M. Provis, "Evidence of photoreceptor migration during early foveal development: a quantitative analysis of human fetal retinae," Visual Neurosci. 8, 505-514 (1992).
[CrossRef]

C. J. Weitz, Y. Miyake, K. Shinzato, E. Montag, E. Zrenner, L. N. Went, and J. Nathans, "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin," Am. J. Hum. Genet. 50, 498-507 (1992).
[PubMed]

C. J. Weitz, L. N. Went, and J. Nathans, "Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment," Am. J. Hum. Genet. 51, 444-446 (1992).
[PubMed]

H. Gao and J. G. Hollyfield, "Aging of the human retina. Differential loss of neurons and retinal pigment epithelial cells," Invest. Ophthalmol. Visual Sci. 33, 1-17 (1992).

1991

C. A. Curcio, K. A. Allen, K. R. Sloan, C. L. Lerea, J. B. Hurley, I. B. Klock, and A. H. Milam, "Distribution and morphology of human cone photoreceptors stained with anti-blue opsin," J. Comp. Neurol. 312, 610-624 (1991).
[CrossRef] [PubMed]

V. C. Sheffield, G. A. Fishman, J. S. Beck, A. E. Kimura, and E. M. Stone, "Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis," Am. J. Hum. Genet. 49, 699-706 (1991).
[PubMed]

T. P. Dryja, L. B. Hahn, G. S. Cowley, T. L. McGee, and E. L. Berson, "Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 9370-9374 (1991).
[CrossRef] [PubMed]

C. H. Sung, C. M. Davenport, J. C. Hennessey, I. H. Maumenee, S. G. Jacobson, J. R. Heckenlively, R. Nowakowski, G. Fishman, P. Gouras, and J. Nathans, "Rhodopsin mutations in autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 6481-6485 (1991).
[CrossRef] [PubMed]

1990

C. A. Curcio, K. R. Sloan, R. E. Kalina, and A. E. Hendrickson, "Human photoreceptor topography," J. Comp. Neurol. 292, 497-523 (1990).
[CrossRef] [PubMed]

1987

1986

C. Yuodelis and A. Hendrickson, "A qualitative and quantitative analysis of the human fovea during development," Vision Res. 26, 847-855 (1986).
[CrossRef] [PubMed]

1985

V. C. Smith, J. Pokorny, and A. S. Pass, "Color-axis determination on the Farnsworth-Munsell 100-hue test," Am. J. Ophthalmol. 100, 176-182 (1985).

L. N. Went and N. Pronk, "The genetics of tritan disturbances," Hum. Genet. 69, 255-262 (1985).
[CrossRef] [PubMed]

Y. Miyake, K. Yagasaki, and H. Ichikawa, "Differential diagnosis of congenital tritanopia and dominantly inherited juvenile optic atrophy," Arch. Ophthalmol. (Chicago) 103, 1496-1501 (1985).

1984

A. E. Hendrickson and C. Yuodelis, "The morphological development of the human fovea," Ophthalmology 91, 603-612 (1984).
[PubMed]

1983

H. J. Dartnall, J. K. Bowmaker, and J. D. Mollon, "Human visual pigments: microspectrophotometric results from the eyes of seven persons," Proc. R. Soc. London, Ser. B 220, 115-130 (1983).
[CrossRef]

1981

1978

H. Wässle and H. J. Riemann, "The mosaic of nerve cells in the mammalian retina," Proc. R. Soc. London, Ser. B 200, 441-461 (1978).
[CrossRef]

1976

T. Neuhann, H. Kalmus, and W. Jaeger, "Ophthalmological findings in the tritans, described by Wright and Kalmus," Mod. Probl. Ophthalmol. 17, 135-142 (1976).
[PubMed]

1973

D. P. Smith, B. L. Cole, and A. Isaacs, "Congenital tritanopia without neuroretinal disease," Invest. Ophthalmol. 12, 608-617 (1973).
[PubMed]

1971

A. E. Krill, V. C. Smith, and J. Pokorny, "Further studies supporting the identity of congenital tritanopia and hereditary dominant optic atrophy," Invest. Ophthalmol. 10, 457-465 (1971).
[PubMed]

1966

B. L. Cole, G. H. Henry, and J. Nathan, "Phenotypical variations of tritanopia," Vision Res. 6, 301-313 (1966).
[CrossRef]

1964

G. H. Henry, B. L. Cole, and J. Nathan, "The inheritance of congenital tritanopia with the report of an extensive pedigree," Ann. Hum. Genet. 27, 219-231 (1964).
[CrossRef] [PubMed]

1955

H. Kalmus, "The familial distribution of congenital tritanopia, with some remarks on some similar conditions," Ann. Hum. Genet. 20, 39-56 (1955).
[CrossRef] [PubMed]

1952

Allen, K. A.

C. A. Curcio, C. L. Millican, K. A. Allen, and R. E. Kalina, "Aging of the human photoreceptor mosaic: evidence for selective vulnerability of rods in central retina," Invest. Ophthalmol. Visual Sci. 34, 3278-3296 (1993).

C. A. Curcio, K. A. Allen, K. R. Sloan, C. L. Lerea, J. B. Hurley, I. B. Klock, and A. H. Milam, "Distribution and morphology of human cone photoreceptors stained with anti-blue opsin," J. Comp. Neurol. 312, 610-624 (1991).
[CrossRef] [PubMed]

Aragón, J. L.

Artal, P.

Beck, J. S.

V. C. Sheffield, G. A. Fishman, J. S. Beck, A. E. Kimura, and E. M. Stone, "Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis," Am. J. Hum. Genet. 49, 699-706 (1991).
[PubMed]

Berson, E. L.

T. P. Dryja, L. B. Hahn, G. S. Cowley, T. L. McGee, and E. L. Berson, "Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 9370-9374 (1991).
[CrossRef] [PubMed]

Bonci, D.

D. F. Ventura, L. C. L. Silveira, A. R. Rodrigues, J. M. De Souza, M. Gualtieri, D. Bonci, and M. F. Costa, "Preliminary norms for the Cambridge Colour Test," in Normal & Defective Colour Vision, J.D.Mollon, J.Pokorny, and K.Knoblauch, eds. (Oxford U. Press, 2003), pp. 331-339.
[CrossRef]

Bowmaker, J. K.

J. W. L. Parry, S. Poopalasundaram, J. K. Bowmaker, and D. M. Hunt, "A novel amino acid substitution is responsible for spectral tuning in a rodent violet-sensitive visual pigment," Biochemistry 43, 8014-8020 (2004).
[CrossRef] [PubMed]

H. J. Dartnall, J. K. Bowmaker, and J. D. Mollon, "Human visual pigments: microspectrophotometric results from the eyes of seven persons," Proc. R. Soc. London, Ser. B 220, 115-130 (1983).
[CrossRef]

Carroll, J.

H. Hofer, J. Carroll, J. Neitz, M. Neitz, and D. R. Williams, "Organization of the human trichromatic cone mosaic," J. Neurosci. 25, 9669-9679 (2005).
[CrossRef] [PubMed]

N. M. Putnam, H. J. Hofer, N. Doble, L. Chen, J. Carroll, and D. R. Williams, "The locus of fixation and the foveal cone mosaic," J. Vision 5, 632-639 (2005).
[CrossRef]

J. Carroll, M. Neitz, J. Wolfing, D. Gray, J. Neitz, and D. R. Williams, "Different genetic causes of red-green color blindness give rise to different retinal phenotypes as assessed with adaptive optics," Invest. Ophthalmol. Visual Sci. 45, E-Abstract 4341 (2004).

J. Carroll, M. Neitz, H. Hofer, J. Neitz, and D. R. Williams, "Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness," Proc. Natl. Acad. Sci. U.S.A. 101, 8461-8466 (2004).
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J. Carroll, J. Neitz, and M. Neitz, "Estimates of L:M cone ratio from ERG flicker photometry and genetics," J. Vision 2, 531-542 (2002).
[CrossRef]

Chen, L.

N. M. Putnam, H. J. Hofer, N. Doble, L. Chen, J. Carroll, and D. R. Williams, "The locus of fixation and the foveal cone mosaic," J. Vision 5, 632-639 (2005).
[CrossRef]

Chung, C. K.

Q. V. Hoang, R. A. Linsenmeier, C. K. Chung, and C. A. Curcio, "Photoreceptor inner segments in monkey and human retina: mitochondrial density, optics, and regional variation," Visual Neurosci. 19, 395-407 (2002).
[CrossRef]

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D. P. Smith, B. L. Cole, and A. Isaacs, "Congenital tritanopia without neuroretinal disease," Invest. Ophthalmol. 12, 608-617 (1973).
[PubMed]

B. L. Cole, G. H. Henry, and J. Nathan, "Phenotypical variations of tritanopia," Vision Res. 6, 301-313 (1966).
[CrossRef]

G. H. Henry, B. L. Cole, and J. Nathan, "The inheritance of congenital tritanopia with the report of an extensive pedigree," Ann. Hum. Genet. 27, 219-231 (1964).
[CrossRef] [PubMed]

Coletta, N. J.

Costa, M. F.

D. F. Ventura, L. C. L. Silveira, A. R. Rodrigues, J. M. De Souza, M. Gualtieri, D. Bonci, and M. F. Costa, "Preliminary norms for the Cambridge Colour Test," in Normal & Defective Colour Vision, J.D.Mollon, J.Pokorny, and K.Knoblauch, eds. (Oxford U. Press, 2003), pp. 331-339.
[CrossRef]

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T. P. Dryja, L. B. Hahn, G. S. Cowley, T. L. McGee, and E. L. Berson, "Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 9370-9374 (1991).
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Q. V. Hoang, R. A. Linsenmeier, C. K. Chung, and C. A. Curcio, "Photoreceptor inner segments in monkey and human retina: mitochondrial density, optics, and regional variation," Visual Neurosci. 19, 395-407 (2002).
[CrossRef]

G. R. Jackson, C. Owsley, and C. A. Curcio, "Photoreceptor degeneration and dysfunction in aging and age-related maculopathy," Aging Res. Rev. 1, 381-396 (2002).
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C. A. Curcio, C. L. Millican, K. A. Allen, and R. E. Kalina, "Aging of the human photoreceptor mosaic: evidence for selective vulnerability of rods in central retina," Invest. Ophthalmol. Visual Sci. 34, 3278-3296 (1993).

C. A. Curcio, K. A. Allen, K. R. Sloan, C. L. Lerea, J. B. Hurley, I. B. Klock, and A. H. Milam, "Distribution and morphology of human cone photoreceptors stained with anti-blue opsin," J. Comp. Neurol. 312, 610-624 (1991).
[CrossRef] [PubMed]

C. A. Curcio, K. R. Sloan, R. E. Kalina, and A. E. Hendrickson, "Human photoreceptor topography," J. Comp. Neurol. 292, 497-523 (1990).
[CrossRef] [PubMed]

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H. J. Dartnall, J. K. Bowmaker, and J. D. Mollon, "Human visual pigments: microspectrophotometric results from the eyes of seven persons," Proc. R. Soc. London, Ser. B 220, 115-130 (1983).
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C. H. Sung, C. M. Davenport, J. C. Hennessey, I. H. Maumenee, S. G. Jacobson, J. R. Heckenlively, R. Nowakowski, G. Fishman, P. Gouras, and J. Nathans, "Rhodopsin mutations in autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 6481-6485 (1991).
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M. B. Shapiro, S. J. Schein, and F. M. de Monasterio, "Regularity and structure of the spatial pattern of blue cones of the Macaque retina," J. Am. Stat. Assoc.803-812 (1985).

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D. F. Ventura, L. C. L. Silveira, A. R. Rodrigues, J. M. De Souza, M. Gualtieri, D. Bonci, and M. F. Costa, "Preliminary norms for the Cambridge Colour Test," in Normal & Defective Colour Vision, J.D.Mollon, J.Pokorny, and K.Knoblauch, eds. (Oxford U. Press, 2003), pp. 331-339.
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C. Diaz-Araya and J. M. Provis, "Evidence of photoreceptor migration during early foveal development: a quantitative analysis of human fetal retinae," Visual Neurosci. 8, 505-514 (1992).
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N. M. Putnam, H. J. Hofer, N. Doble, L. Chen, J. Carroll, and D. R. Williams, "The locus of fixation and the foveal cone mosaic," J. Vision 5, 632-639 (2005).
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R. E. Stenkamp, S. Filipek, C. A. G. G. Driessen, D. C. Teller, and K. Palczewski, "Crystal structure of rhodopsin: a template for cone visual pigments and other G protein-coupled receptors," Biochim. Biophys. Acta 1565, 168-182 (2002).
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T. P. Dryja, L. B. Hahn, G. S. Cowley, T. L. McGee, and E. L. Berson, "Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 9370-9374 (1991).
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J. I. Fasick, N. Lee, and D. D. Oprian, "Spectral tuning in the human blue cone pigment," Biochemistry 38, 11593-11596 (1999).
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R. E. Stenkamp, S. Filipek, C. A. G. G. Driessen, D. C. Teller, and K. Palczewski, "Crystal structure of rhodopsin: a template for cone visual pigments and other G protein-coupled receptors," Biochim. Biophys. Acta 1565, 168-182 (2002).
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C. H. Sung, C. M. Davenport, J. C. Hennessey, I. H. Maumenee, S. G. Jacobson, J. R. Heckenlively, R. Nowakowski, G. Fishman, P. Gouras, and J. Nathans, "Rhodopsin mutations in autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 6481-6485 (1991).
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Fishman, G. A.

V. C. Sheffield, G. A. Fishman, J. S. Beck, A. E. Kimura, and E. M. Stone, "Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis," Am. J. Hum. Genet. 49, 699-706 (1991).
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L. Galli-Resta, E. Novelli, Z. Kryger, G. H. Jacobs, and B. E. Reese, "Modelling the mosaic organization of rod and cone photoreceptors with a minimal-spacing rule," Eur. J. Neurosci. 11, 1461-1469 (1999).
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H. Gao and J. G. Hollyfield, "Aging of the human retina. Differential loss of neurons and retinal pigment epithelial cells," Invest. Ophthalmol. Visual Sci. 33, 1-17 (1992).

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J. Hwa, P. Garriga, X. Liu, and H. G. Khorana, "Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled," Proc. Natl. Acad. Sci. U.S.A. 94, 10571-10576 (1997).
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Gouras, P.

C. H. Sung, C. M. Davenport, J. C. Hennessey, I. H. Maumenee, S. G. Jacobson, J. R. Heckenlively, R. Nowakowski, G. Fishman, P. Gouras, and J. Nathans, "Rhodopsin mutations in autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 6481-6485 (1991).
[CrossRef] [PubMed]

Gray, D.

J. Carroll, M. Neitz, J. Wolfing, D. Gray, J. Neitz, and D. R. Williams, "Different genetic causes of red-green color blindness give rise to different retinal phenotypes as assessed with adaptive optics," Invest. Ophthalmol. Visual Sci. 45, E-Abstract 4341 (2004).

Gualtieri, M.

D. F. Ventura, L. C. L. Silveira, A. R. Rodrigues, J. M. De Souza, M. Gualtieri, D. Bonci, and M. F. Costa, "Preliminary norms for the Cambridge Colour Test," in Normal & Defective Colour Vision, J.D.Mollon, J.Pokorny, and K.Knoblauch, eds. (Oxford U. Press, 2003), pp. 331-339.
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K. L. Gunther, J. Neitz, and M. Neitz, "A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect," Visual Neurosci. 23, 403-409 (2006).
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T. P. Dryja, L. B. Hahn, G. S. Cowley, T. L. McGee, and E. L. Berson, "Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 9370-9374 (1991).
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S. K. Shevell, J. C. He, P. Kainz, J. Neitz, and M. Neitz, "Relating color discrimination to photopigment genes in deutan observers," Vision Res. 38, 3371-3376 (1998).
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C. H. Sung, C. M. Davenport, J. C. Hennessey, I. H. Maumenee, S. G. Jacobson, J. R. Heckenlively, R. Nowakowski, G. Fishman, P. Gouras, and J. Nathans, "Rhodopsin mutations in autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 6481-6485 (1991).
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C. Yuodelis and A. Hendrickson, "A qualitative and quantitative analysis of the human fovea during development," Vision Res. 26, 847-855 (1986).
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C. A. Curcio, K. R. Sloan, R. E. Kalina, and A. E. Hendrickson, "Human photoreceptor topography," J. Comp. Neurol. 292, 497-523 (1990).
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A. E. Hendrickson and C. Yuodelis, "The morphological development of the human fovea," Ophthalmology 91, 603-612 (1984).
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C. H. Sung, C. M. Davenport, J. C. Hennessey, I. H. Maumenee, S. G. Jacobson, J. R. Heckenlively, R. Nowakowski, G. Fishman, P. Gouras, and J. Nathans, "Rhodopsin mutations in autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 6481-6485 (1991).
[CrossRef] [PubMed]

Henry, G. H.

B. L. Cole, G. H. Henry, and J. Nathan, "Phenotypical variations of tritanopia," Vision Res. 6, 301-313 (1966).
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G. H. Henry, B. L. Cole, and J. Nathan, "The inheritance of congenital tritanopia with the report of an extensive pedigree," Ann. Hum. Genet. 27, 219-231 (1964).
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M. Pelizzone, J. Sommerhalder, A. Roth, and D. Hermès, "Automated Rayleigh and Moreland matches on a computer-controlled anomaloscope," in Colour Vision Deficiencies, B.Drum, J.D.Moreland, and A.Serra, eds. (Kluwer, 1991), pp. 151-159.
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Q. V. Hoang, R. A. Linsenmeier, C. K. Chung, and C. A. Curcio, "Photoreceptor inner segments in monkey and human retina: mitochondrial density, optics, and regional variation," Visual Neurosci. 19, 395-407 (2002).
[CrossRef]

Hofer, H.

H. Hofer, J. Carroll, J. Neitz, M. Neitz, and D. R. Williams, "Organization of the human trichromatic cone mosaic," J. Neurosci. 25, 9669-9679 (2005).
[CrossRef] [PubMed]

J. Carroll, M. Neitz, H. Hofer, J. Neitz, and D. R. Williams, "Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness," Proc. Natl. Acad. Sci. U.S.A. 101, 8461-8466 (2004).
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A. Pallikaris, D. R. Williams, and H. Hofer, "The reflectance of single cones in the living human eye," Invest. Ophthalmol. Visual Sci. 44, 4580-4592 (2003).
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Hofer, H. J.

N. M. Putnam, H. J. Hofer, N. Doble, L. Chen, J. Carroll, and D. R. Williams, "The locus of fixation and the foveal cone mosaic," J. Vision 5, 632-639 (2005).
[CrossRef]

Hollyfield, J. G.

H. Gao and J. G. Hollyfield, "Aging of the human retina. Differential loss of neurons and retinal pigment epithelial cells," Invest. Ophthalmol. Visual Sci. 33, 1-17 (1992).

Hunt, D. M.

J. W. L. Parry, S. Poopalasundaram, J. K. Bowmaker, and D. M. Hunt, "A novel amino acid substitution is responsible for spectral tuning in a rodent violet-sensitive visual pigment," Biochemistry 43, 8014-8020 (2004).
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C. A. Curcio, K. A. Allen, K. R. Sloan, C. L. Lerea, J. B. Hurley, I. B. Klock, and A. H. Milam, "Distribution and morphology of human cone photoreceptors stained with anti-blue opsin," J. Comp. Neurol. 312, 610-624 (1991).
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Hwa, J.

J. Hwa, P. Garriga, X. Liu, and H. G. Khorana, "Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled," Proc. Natl. Acad. Sci. U.S.A. 94, 10571-10576 (1997).
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Y. Miyake, K. Yagasaki, and H. Ichikawa, "Differential diagnosis of congenital tritanopia and dominantly inherited juvenile optic atrophy," Arch. Ophthalmol. (Chicago) 103, 1496-1501 (1985).

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D. P. Smith, B. L. Cole, and A. Isaacs, "Congenital tritanopia without neuroretinal disease," Invest. Ophthalmol. 12, 608-617 (1973).
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Jackson, G. R.

G. R. Jackson, C. Owsley, and C. A. Curcio, "Photoreceptor degeneration and dysfunction in aging and age-related maculopathy," Aging Res. Rev. 1, 381-396 (2002).
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Jacobs, G. H.

L. Galli-Resta, E. Novelli, Z. Kryger, G. H. Jacobs, and B. E. Reese, "Modelling the mosaic organization of rod and cone photoreceptors with a minimal-spacing rule," Eur. J. Neurosci. 11, 1461-1469 (1999).
[CrossRef] [PubMed]

Jacobson, S. G.

C. H. Sung, C. M. Davenport, J. C. Hennessey, I. H. Maumenee, S. G. Jacobson, J. R. Heckenlively, R. Nowakowski, G. Fishman, P. Gouras, and J. Nathans, "Rhodopsin mutations in autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 6481-6485 (1991).
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T. Neuhann, H. Kalmus, and W. Jaeger, "Ophthalmological findings in the tritans, described by Wright and Kalmus," Mod. Probl. Ophthalmol. 17, 135-142 (1976).
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Jägle, H.

L. T. Sharpe, A. Stockman, H. Jägle, H. Knau, G. Klausen, A. Reitner, and J. Nathans, "Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically measured spectral sensitivities," J. Neurosci. 18, 10053-10069 (1998).
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Kainz, P.

S. K. Shevell, J. C. He, P. Kainz, J. Neitz, and M. Neitz, "Relating color discrimination to photopigment genes in deutan observers," Vision Res. 38, 3371-3376 (1998).
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Kainz, P. M.

J. Neitz, M. Neitz, and P. M. Kainz, "Visual pigment gene structure and the severity of color vision defects," Science 274, 801-804 (1996).
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C. A. Curcio, C. L. Millican, K. A. Allen, and R. E. Kalina, "Aging of the human photoreceptor mosaic: evidence for selective vulnerability of rods in central retina," Invest. Ophthalmol. Visual Sci. 34, 3278-3296 (1993).

C. A. Curcio, K. R. Sloan, R. E. Kalina, and A. E. Hendrickson, "Human photoreceptor topography," J. Comp. Neurol. 292, 497-523 (1990).
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T. Neuhann, H. Kalmus, and W. Jaeger, "Ophthalmological findings in the tritans, described by Wright and Kalmus," Mod. Probl. Ophthalmol. 17, 135-142 (1976).
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H. Kalmus, "The familial distribution of congenital tritanopia, with some remarks on some similar conditions," Ann. Hum. Genet. 20, 39-56 (1955).
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J. Hwa, P. Garriga, X. Liu, and H. G. Khorana, "Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled," Proc. Natl. Acad. Sci. U.S.A. 94, 10571-10576 (1997).
[CrossRef] [PubMed]

Kimura, A. E.

V. C. Sheffield, G. A. Fishman, J. S. Beck, A. E. Kimura, and E. M. Stone, "Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis," Am. J. Hum. Genet. 49, 699-706 (1991).
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P. R. Kinnear and A. Sahraie, "New Farnsworth-Munsell 100 hue test norms of normal observers for each year of age 5-22 and for age decades 30-70," Br. J. Ophthamol. 86, 1408-1411 (2002).
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L. T. Sharpe, A. Stockman, H. Jägle, H. Knau, G. Klausen, A. Reitner, and J. Nathans, "Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically measured spectral sensitivities," J. Neurosci. 18, 10053-10069 (1998).
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C. A. Curcio, K. A. Allen, K. R. Sloan, C. L. Lerea, J. B. Hurley, I. B. Klock, and A. H. Milam, "Distribution and morphology of human cone photoreceptors stained with anti-blue opsin," J. Comp. Neurol. 312, 610-624 (1991).
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Knau, H.

L. T. Sharpe, A. Stockman, H. Jägle, H. Knau, G. Klausen, A. Reitner, and J. Nathans, "Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically measured spectral sensitivities," J. Neurosci. 18, 10053-10069 (1998).
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A. E. Krill, V. C. Smith, and J. Pokorny, "Further studies supporting the identity of congenital tritanopia and hereditary dominant optic atrophy," Invest. Ophthalmol. 10, 457-465 (1971).
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Kryger, Z.

L. Galli-Resta, E. Novelli, Z. Kryger, G. H. Jacobs, and B. E. Reese, "Modelling the mosaic organization of rod and cone photoreceptors with a minimal-spacing rule," Eur. J. Neurosci. 11, 1461-1469 (1999).
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A. Kurtenbach, U. Schiefer, A. Neu, and E. Zrenner, "Preretinopic changes in the colour vision of juvenile diabetics," Br. J. Ophthamol. 83, 43-46 (1999).
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Lee, N.

J. I. Fasick, N. Lee, and D. D. Oprian, "Spectral tuning in the human blue cone pigment," Biochemistry 38, 11593-11596 (1999).
[CrossRef] [PubMed]

Lennie, P.

A. Roorda, A. B. Metha, P. Lennie, and D. R. Williams, "Packing arrangement of the three cone classes in primate retina," Vision Res. 41, 1291-1306 (2001).
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Lerea, C. L.

C. A. Curcio, K. A. Allen, K. R. Sloan, C. L. Lerea, J. B. Hurley, I. B. Klock, and A. H. Milam, "Distribution and morphology of human cone photoreceptors stained with anti-blue opsin," J. Comp. Neurol. 312, 610-624 (1991).
[CrossRef] [PubMed]

Liang, J.

Linsenmeier, R. A.

Q. V. Hoang, R. A. Linsenmeier, C. K. Chung, and C. A. Curcio, "Photoreceptor inner segments in monkey and human retina: mitochondrial density, optics, and regional variation," Visual Neurosci. 19, 395-407 (2002).
[CrossRef]

Liu, X.

J. Hwa, P. Garriga, X. Liu, and H. G. Khorana, "Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled," Proc. Natl. Acad. Sci. U.S.A. 94, 10571-10576 (1997).
[CrossRef] [PubMed]

Maumenee, I. H.

C. H. Sung, C. M. Davenport, J. C. Hennessey, I. H. Maumenee, S. G. Jacobson, J. R. Heckenlively, R. Nowakowski, G. Fishman, P. Gouras, and J. Nathans, "Rhodopsin mutations in autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 6481-6485 (1991).
[CrossRef] [PubMed]

McGee, T. L.

T. P. Dryja, L. B. Hahn, G. S. Cowley, T. L. McGee, and E. L. Berson, "Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa," Proc. Natl. Acad. Sci. U.S.A. 88, 9370-9374 (1991).
[CrossRef] [PubMed]

Metha, A. B.

A. Roorda, A. B. Metha, P. Lennie, and D. R. Williams, "Packing arrangement of the three cone classes in primate retina," Vision Res. 41, 1291-1306 (2001).
[CrossRef] [PubMed]

Milam, A. H.

C. A. Curcio, K. A. Allen, K. R. Sloan, C. L. Lerea, J. B. Hurley, I. B. Klock, and A. H. Milam, "Distribution and morphology of human cone photoreceptors stained with anti-blue opsin," J. Comp. Neurol. 312, 610-624 (1991).
[CrossRef] [PubMed]

Miller, D. T.

Millican, C. L.

C. A. Curcio, C. L. Millican, K. A. Allen, and R. E. Kalina, "Aging of the human photoreceptor mosaic: evidence for selective vulnerability of rods in central retina," Invest. Ophthalmol. Visual Sci. 34, 3278-3296 (1993).

Miyake, Y.

C. J. Weitz, Y. Miyake, K. Shinzato, E. Montag, E. Zrenner, L. N. Went, and J. Nathans, "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin," Am. J. Hum. Genet. 50, 498-507 (1992).
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Y. Miyake, K. Yagasaki, and H. Ichikawa, "Differential diagnosis of congenital tritanopia and dominantly inherited juvenile optic atrophy," Arch. Ophthalmol. (Chicago) 103, 1496-1501 (1985).

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Montag, E.

C. J. Weitz, Y. Miyake, K. Shinzato, E. Montag, E. Zrenner, L. N. Went, and J. Nathans, "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin," Am. J. Hum. Genet. 50, 498-507 (1992).
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S. Yokoyama, W. T. Starmer, Y. Takahashi, and T. Tada, "Tertiary structure and spectral tuning of UV and violet pigments in vertebrates," Gene 365, 95-103 (2006).
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A. Kurtenbach, U. Schiefer, A. Neu, and E. Zrenner, "Preretinopic changes in the colour vision of juvenile diabetics," Br. J. Ophthamol. 83, 43-46 (1999).
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Am. J. Hum. Genet.

C. J. Weitz, Y. Miyake, K. Shinzato, E. Montag, E. Zrenner, L. N. Went, and J. Nathans, "Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin," Am. J. Hum. Genet. 50, 498-507 (1992).
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C. J. Weitz, L. N. Went, and J. Nathans, "Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment," Am. J. Hum. Genet. 51, 444-446 (1992).
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Figures (5)

Fig. 1
Fig. 1

Results of the Farnsworth–Munsell 100-Hue test for subjects (a) M04 (father), (b) M505 (daughter), (c) M503 (son).

Fig. 2
Fig. 2

Model of the S-opsin gene. Circles represent amino acids. The light gray circle indicates the location of the R283Q substitution in the family in this study, who had differing degrees of tritan color-vision deficiency. The other four reported mutations causing tritan color-vision deficiency are indicated by black filled circles: G79R, S214P, P264S, L56P. The figure is modified from Ref. [29] with permission.

Fig. 3
Fig. 3

Retinal images of two tritan subjects. (a) Images from the right eye of the daughter (M505). Numerous cones that are either S cones or empty cones are visible as dark regions in the absorptance image. Given M505’s behavioral measurements, and the fact that the number of candidate S cones is consistent with normal S-cone density, it is probable that they are S cones. The analysis was done at two different retinal locations at 1.25 - deg eccentricity. (b) Images from left eye of the father (M04) at 1.25 - deg eccentricity. There is no evidence for S cones. There appears to be some increased irregularity in the mosaic, which may be a signature of cone death.

Fig. 4
Fig. 4

Analysis of mosaic regularity. (a) Retinal image from a normal trichromat (R008, 1.0 deg ). (b) Two-dimensional plot of cone locations from (a). (c) Voronoi domain associated with each cone photoreceptor in (a). (d) Color-coded version of (c), where the color indicates the number of sides on each Voronoi polygon ( magenta = 4 , blue = 5 , green = 6 , yellow = 7 , red = 8 , purple = 9 ). Large regions of six-sided polygons indicate a regular triangular lattice, whereas other colors mark points of disruption in the hexagonal packing of the foveal mosaic. (e) Color-coded Voronoi diagram from a normal trichromat (R031, 1.25 deg ). (f) Color-coded Voronoi diagram from a tritanopic subject (M04, 1.0 deg ). The normal subjects were chosen for comparison because they had cone densities close to that of M04.

Fig. 5
Fig. 5

Correlation of cone density with (a) SD of Voronoi area and (b) mean NND. Filled circles are from normal controls, open squares are from subject M04 (1.0 and 1.25 deg ). Solid line is best-fitting linear regression, and dashed lines are 95% confidence intervals.

Tables (1)

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Table 1 Statistics of the Spatial Arrangement of the Cone Mosaic

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