Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities

Baraas, Rigmor C.; Hagen, Lene Aarvelta; Dees, Elise W.; Neitz, Mary Jo

doi:10.1016/j.visres.2012.09.007

Cited by 24 publications

(15 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The genetically-confirmed protan carrier control had an estimate of 39% L cones, which was lower than any of the female normal trichromats. She was also heterozygous for the S-opsin mutation Tl 901, which causes abnormal S-cone function ( Baraas, Hagen, Dees, & Neitz, 2012 ).…”

Section: Resultsmentioning

confidence: 99%

The association between L:M cone ratio, cone opsin genes and myopia susceptibility

et al. 2019

Self Cite

View full text Add to dashboard Cite

In syndromic forms of myopia caused by long (L) to middle (M) wavelength (L/M) interchange mutations, erroneous contrast signals from ON-bipolar cells activated by cones with different levels of opsin expression are suggested to make the eye susceptible to increased growth. This susceptibility is modulated by the L:M cone ratio. Here, we examined L and M opsin genes, L:M cone ratios and their association with common refractive errors in a population with low myopia prevalence. Cycloplegic autorefraction and ocular biometry were obtained for Norwegian genetically-confirmed normal trichromats. L:M cone ratios were estimated from spectral sensitivity functions measured with full-field ERG, after adjusting for individual differences in the wavelength of peak absorption deduced from cone opsin genetics. Mean L:M cone ratios and the frequency of alanine at L opsin position 180 were higher in males than what has been reported in males in populations with high myopia prevalence. High L:M cone ratios in females were associated with lower degree of myopia, and myopia was more frequent in females who were heterozygous for L opsin exon 3 haplotypes than in those who were homozygous. The results suggest that the L:M cone ratio, combined with milder versions of L opsin gene polymorphisms, may play a role in common myopia. This may in part explain the low myopia prevalence in Norwegian adolescents and why myopia prevalence was higher in females who were heterozygous for the L opsin exon 3 haplotype, since females are twice as likely to have genetic polymorphisms carried on the X-chromosome.

show abstract

Section: Resultsmentioning

confidence: 99%

The association between L:M cone ratio, cone opsin genes and myopia susceptibility

et al. 2019

Self Cite

View full text Add to dashboard Cite

show abstract

“…Furthermore, tritan scores of the elderly did not indicate tritanopia, at least when compared with the tritan vector length (at the limit of 1000) observed for one congenital tritanope, not included in this study, with a confirmed P264S mutation of the S-cone opsin gene on chromosome 7 [42,43]. For other older subjects with high tritan vectors, we cannot exclude the possibility of incomplete penetrance of an S-cone mutation that could result in milder tritan deficiencies [44,45], although this is unlikely in view of the low prevalence. Older observers often have acquired deficiency of color vision secondary to retinal or optic nerve disease affecting tritan discrimination [46,47]; however, retinal diseases were exclusion criteria for participation in this study.…”

Section: Discussionmentioning

confidence: 99%

Discrimination thresholds of normal and anomalous trichromats: Model of senescent changes in ocular media density on the Cambridge Colour Test

Shinomori¹,

Panorgias²,

Werner³

2016

J. Opt. Soc. Am. A

View full text Add to dashboard Cite

Age-related changes in chromatic discrimination along dichromatic confusion lines were measured with the Cambridge Colour Test (CCT). One hundred and sixty-two individuals (16 to 88 years old) with normal Rayleigh matches were the major focus of this paper. An additional 32 anomalous trichromats classified by their Rayleigh matches were also tested. All subjects were screened to rule out abnormalities of the anterior and posterior segments. Thresholds on all three chromatic vectors measured with the CCT showed age-related increases. Protan and deutan vector thresholds increased linearly with age while the tritan vector threshold was described with a bilinear model. Analysis and modeling demonstrated that the nominal vectors of the CCT are shifted by senescent changes in ocular media density, and a method for correcting the CCT vectors is demonstrated. A correction for these shifts indicates that classification among individuals of different ages is unaffected. New vector thresholds for elderly observers and for all age groups are suggested based on calculated tolerance limits.

show abstract

“…The normal controls and 16 of the participants with aniridia (age 11–66 years, logMAR 0.00–0.90) were tested with the CCT Trivector test following standard procedures. 46 , 47 The test was performed binocularly and took 3 to 4 minutes to complete. Participants were tested twice, and average thresholds were used for analysis.…”

Section: Methodsmentioning

confidence: 99%

Color Vision in Aniridia

Pedersen

Hagen

Landsend

et al. 2018

Invest. Ophthalmol. Vis. Sci.

Self Cite

View full text Add to dashboard Cite

PurposeTo assess color vision and its association with retinal structure in persons with congenital aniridia.MethodsWe included 36 persons with congenital aniridia (10–66 years), and 52 healthy, normal trichromatic controls (10–74 years) in the study. Color vision was assessed with Hardy-Rand-Rittler (HRR) pseudo-isochromatic plates (4th ed., 2002); Cambridge Color Test and a low-vision version of the Color Assessment and Diagnosis test (CAD-LV). Cone-opsin genes were analyzed to confirm normal versus congenital color vision deficiencies. Visual acuity and ocular media opacities were assessed. The central 30° of both eyes were imaged with the Heidelberg Spectralis OCT2 to grade the severity of foveal hypoplasia (FH, normal to complete: 0–4).ResultsFive participants with aniridia had cone opsin genes conferring deutan color vision deficiency and were excluded from further analysis. Of the 31 with aniridia and normal opsin genes, 11 made two or more red-green (RG) errors on HRR, four of whom also made yellow-blue (YB) errors; one made YB errors only. A total of 19 participants had higher CAD-LV RG thresholds, of which eight also had higher CAD-LV YB thresholds, than normal controls. In aniridia, the thresholds were higher along the RG than the YB axis, and those with a complete FH had significantly higher RG thresholds than those with mild FH (P = 0.038). Additional increase in YB threshold was associated with secondary ocular pathology.ConclusionsArrested foveal formation and associated alterations in retinal processing are likely to be the primary reason for impaired red-green color vision in aniridia.

show abstract

Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities

Cited by 24 publications

References 25 publications

The association between L:M cone ratio, cone opsin genes and myopia susceptibility

The association between L:M cone ratio, cone opsin genes and myopia susceptibility

Discrimination thresholds of normal and anomalous trichromats: Model of senescent changes in ocular media density on the Cambridge Colour Test

Color Vision in Aniridia

Contact Info

Product

Resources

About