Progressive cone dystrophy with deutan genotype and phenotype

Scholl, Hendrik P. N.; Kremers, Jan; Besch, Dorothea; Zrenner, Eberhart; Jägle, Herbert

doi:10.1007/s00417-005-0022-7

Cited by 3 publications

(3 citation statements)

References 36 publications

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“…Other cases of cone-dominated disease (either BCM or progressive CD) have been reported to carry a deutan-protan genotype as well. 10,30,31 It is intriguing to consider the possibility that a skewed L/M cone photoreceptor ratio in combination with a deutan/protan genetic defect may lead to a severe retinal phenotype. High-resolution adaptive optics imaging identified a large variation in the L/M cone photoreceptors ratio (ranging from 1.1:1 to 16.5:1), even among individuals with normal VA and color vision.…”

Section: Discussionmentioning

confidence: 99%

Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array

Mizrahi-Meissonnier

Merin

Banin

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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Section: Discussionmentioning

confidence: 99%

Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array

Mizrahi-Meissonnier

Merin

Banin

et al. 2010

Invest. Ophthalmol. Vis. Sci.

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“…Whether in these instances there is a more pronounced retinal phenotype, remains to be seen. However there are several reports in the literature in which red-green color vision deficiency is associated with a retinal dystrophy (Kellner, Sadowski, Zrenner & Foerster, 1995, Michaelides, Johnson, Bradshaw, Holder, Simunovic, Mollon, Moore & Hunt, 2005, Reichel, Bruce, Sandberg & Berson, 1989, Scholl, Kremers, Besch, Zrenner & Jägle, 2006, Scholl, Kremers & Wissinger, 2001). It is tempting to speculate that some of these cases may indeed represent instances where a mutant opsin was expressed in such a large number of cones that it affected the overall health of the retina.…”

Section: Discussionmentioning

confidence: 99%

Color-deficient cone mosaics associated with Xq28 opsin mutations: A stop codon versus gene deletions

et al. 2010

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Our understanding of the etiology of red-green color vision defects is evolving. While missense mutations within the long- (L-) and middle-wavelength sensitive (M-) photopigments and gross rearrangements within the L/M-opsin gene array are commonly associated with red-green defects, recent work using adaptive optics retinal imaging has shown that different genotypes can have distinct consequences for the cone mosaic. Here we examined the cone mosaic in red-green color deficient individuals with multiple X-chromosome opsin genes that encode L opsin, as well as individuals with a single X-chromosome opsin gene that encodes L opsin and a single patient with a novel premature termination codon in his M-opsin gene and a normal L-opsin gene. We observed no difference in cone density between normal trichomats and multiple or single gene dichromats. In addition, we demonstrate different phenotypic effects of a nonsense mutation versus the previously described deleterious polymorphism, (LIAVA), both of which differ from multiple and single gene dichromats. Our results help refine the relationship between opsin genotype and cone photoreceptor mosaic phenotype.

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“…We recruited 103 individuals with normal color vision for retinal imaging with OCT (n ϭ 86), AO (n ϭ 10), or both AO and OCT (n ϭ 7). We re-examined an individual (''LIAVA'') previously reported to have a patchy loss of visible cones *There have been a few reports suggesting cone degeneration associated with a color vision defect (42)(43)(44)(45)(46), though in most of these cases the color vision defect was not proposed to be causative, nor was the genotype thoroughly described. Plotted is the percentage of cones with 6-sided Voronoi domains for the normal controls as well as the color defective subjects (4511, 4515, and LIAVA).…”

Section: Methodsmentioning

confidence: 99%

Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

Carroll

Baraas

Wagner-Schuman

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

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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.color vision ͉ cone mosaic ͉ photopigment ͉ retinal imaging ͉ rhodopsin N ormal human color vision is trichromatic and derives from the presence of three spectrally distinct cone types: long-, middle-, and short-wavelength-sensitive (L, M, and S). Redgreen color vision defects are characterized by the absence of either L or M cone function and they affect about one in 12 Caucasian males. Inherited red-green defects can be linked to disruptions at the X-chromosome opsin gene locus, where the Land M-cone opsin genes reside in a head-to-tail array (1). Most of these disruptions involve gross gene rearrangements (2-6). However, it is becoming appreciated that missense mutations underlie a significant proportion of red-green defects (5-8). This raises the question of what impact these missense mutations have on the viability of the cones.Some insight comes from rhodopsin. There are Ͼ130 distinct rhodopsin mutations, involving at least 89 sites within the molecule (data compiled from refs. 9-17.) With rare exception (e.g., refs. 9 and 18), each of these mutations has been associated with either retinitis pigmentosa (RP) or congenital stationary night blindness. Rhodopsin and the cone opsins have structural similarities and similar functional demands. Thus, it is reasonable to hypothesize that mutations in the cone opsins homologous to those in rhodopsin that cause retinitis pigmentosa would affect the viability of the cones.The most common missense mutation in the cone opsins is a substitution of cytosine for thymine at nucleotide position 1101, which corresponds to a substitution of arginine for cysteine at amino acid position 203 (C203R) (Fig. S1). The corresponding mutation in rhodopsin (C187Y) disrupts proper folding of the pigment, causing severe, early onset retinitis pigmentos...

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Progressive cone dystrophy with deutan genotype and phenotype

Cited by 3 publications

References 36 publications

Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array

Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array

Color-deficient cone mosaics associated with Xq28 opsin mutations: A stop codon versus gene deletions

Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

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