Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency
نویسندگان
چکیده
منابع مشابه
Color matching in autosomal dominant tritan defect.
We evaluated color matching in 39 observers with an autosomal dominant tritan defect. Eleven tritans were dichromats with 1 degrees field, and only two were dichromats with an 8 degrees field. Twenty-one of the tritan observers ahd normal blue-green equations with an 8 degrees field, indicating that autosomal dominant tritans have short-wavelength-sensitive cones. Some of the tritan observers s...
متن کاملA novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect.
Inherited tritan color vision deficiency is caused by defects in the function of the short-wavelength-sensitive (S) cones. This heterozygous group of disorders has an autosomal dominant pattern of inheritance. Amino acid variations of the S cone opsin are rare and all that have been identified thus far are associated with inherited tritan color vision defects. Here we report the identification ...
متن کاملAdaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency.
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 t...
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Background and Aims: Engagement of the receptor for advanced glycation end products (RAGE) and its ligand “S100A12 protein” induce a cascade of reactions that eventually might lead to develop an inflammatory response dependent on NF-κB. Although involvement of S100A12 and RAGE in some autoimmune disease have proved, in chronic hepatitis B (CHB) infection functions of the prote...
متن کاملTraumatically acquired color vision defect.
A 24-year-old man acquired a color vision defect shortly after an accident in which he struck the back of his head. Results of the Farnsworth-Munsell 100-hue test showed that the patient had poor color discrimination in both eyes. His color matches on the Nagel anomaloscope suggested a red/green disturbance. Results from increment threshold testing demonstrated on absence of the blue mechanism....
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ژورنال
عنوان ژورنال: Journal of the Optical Society of America A
سال: 2020
ISSN: 1084-7529,1520-8532
DOI: 10.1364/josaa.381919