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Numbers and ratios of visual pigment genes for normal red-green color vision.

Red-green color vision is based on middle-wavelength- and long-wavelength-sensitive visual pigments encoded by an array of genes on the X chromosome. The numbers and ratios of genes in this cluster were reexamined in men with normal color vision by means of newly refined methods. These methods revealed that many men had more pigment genes on the X chromosome than had previously been suggested and that many had more than one long-wave pigment gene. These discoveries challenge accepted ideas that are the foundation for theories of normal and anomalous color vision.

Base Sequence↗

Bilateral symmetry of vision disorders in typical retinitis pigmentosa.

Bilateral symmetry of disorders of vision is examined in 60 typical patients with retinitis pigmentosa. We observed a very high degree of interocular congruence in the patterns of both kinetic visual field defects and threshold profiles and in abnormalities of foveal colour discrimination and visual acuity. Abnormalities of foveal colour vision are highly correlated with the extent of visual field loss.

Adolescent↗

Electrophysiology and colour perimetry in dominant infantile optic atrophy.

A typical finding in dominant infantile optic atrophy (DIOA) is the variation of the phenotypic expression of the DIOA gene even within one family. It is of special interest for genetic consultation to evaluate an examination method for detecting subclinically involved patients. Seven patients of two families were examined. Three of them had the typical symptoms of DIOA: reduced visual acuity, tritan defect, temporal pallor of both optic discs, and a relative central scotoma for white test spots. In visual evoked cortical potentials (VECP) the amplitudes were reduced, and in one patient the latencies were slightly delayed and two patients considerably so. The amplitude of the negative component of the PERG was markedly reduced, while the positive component was normal. In the remaining four family members normal retinal and cortical responses were recorded under standard conditions and visual fields and colour vision (FM 100 hue) were also normal. However, static perimetry with blue test spots showed in two family members enlarged central scotomas, thus proving that they had subclinical DIOA.

Adolescent↗

Dominant cone dystrophy starting with blue cone involvement.

The results of ophthalmological and colour vision studies are reported on 13 patients from a family with a dominant cone dystrophy spanning seven generations. The onset of visual deterioration occurred in the third or fourth decade. In the early stages of the disease, when visual acuity is still close to normal, a severe defect in the blue sensitivity is already present, as measured by spectral sensitivity curves and other tests suitable for the detection of tritan defects. In our opinion this condition represents a distinct entity with autosomal dominant inheritance.

Adult↗

Effect of diabetes associated increases in lens optical density on colour discrimination in insulin dependent diabetes.

Optical density (OD) of the crystalline lens has been shown in non-diabetics to increase linearly with age over the first five decades and at an increased rate thereafter; in insulin dependent diabetic (IDDM) patients, lens OD increases with age and with duration of diabetes at a rate similar to that in non-diabetics over the age of 60 years. Recently, it has been established that colour discrimination is abnormal in a majority of young patients with uncomplicated IDDM and angiographically normal retinas. Colour discrimination loss was attributed to functional abnormalities in the retina or neural pathways; yet the possibility exists that increases in lens OD may account for part or all of the colour discrimination loss in IDDM. In the present study, colour discrimination was compared in aretinopathic IDDM patients and age-matched controls, and then in a group of aretinopathic IDDM patients individually matched to controls with respect to lens OD. Colour discrimination was significantly worse in diabetic patients than in age-matched controls, and was significantly worse when diabetic patients were compared with controls matched for OD. The magnitude of the difference in 100 hue error score between diabetic patients and OD matched controls was, however, considerably less than the difference between diabetic patients and age-matched controls. These data suggest that colour discrimination loss in aretinopathic IDDM patients cannot be explained solely on the basis of diabetes induced increases in lens OD, but must involve abnormalities of the retina or its neural connections.

Adolescent↗

Survey of colour contrast sensitivity in non-ophthalmic users of blue-green wavelength argon lasers.

BACKGROUND: Previous studies have shown that ophthalmologists using blue-green argon laser may suffer subtle defects in their colour vision. A reduction in colour contrast sensitivity in the tritan colour confusion axis, an early manifestation of blue cone photoreceptor injury by the high energy photons of the laser, has been demonstrated and has prompted a reappraisal of laser safety in ophthalmology. Argon laser is also frequently used in scientific research, often at higher power output and for longer periods than is used in clinical practice. The scientists operating these lasers are at risk of developing similar phototoxic retinal injury. METHODS: The colour contrast sensitivity of 18 scientists who regularly use short wavelength argon laser was investigated. RESULTS: Eye protection was infrequently used and individuals had been subjected to between 580 and 7200 hours of cumulative laser exposure during the course of their research. CONCLUSION: The use of blue-green argon laser by the scientists investigated was not associated with a significant reduction in colour contrast sensitivity.

Adult↗

Screening for CMV retinitis using chromatic discrimination thresholds and achromatic contrast sensitivity.

BACKGROUND: Many patients with cytomegalovirus retinitis (CMVR) are unaware of visual disturbance so screening is advocated for patients with HIV and low CD4 counts. Many tests of retinal function have been recommended but few are effective at detecting CMVR. We assess the potential of chromatic discrimination thresholds and achromatic contrast sensitivity as screening tests for patients with CMVR. METHOD: 11 HIV+ patients with CMVR, 16 age matched HIV+ patients, and 29 age matched controls were recruited. Visual acuity, chromatic discrimination thresholds, and achromatic contrast sensitivity were measured. Fundal examination was performed by slit lamp biomicroscopy for HIV+ patients. Those with CMVR were photographed and the CMVR graded from the photographs. RESULTS: Loss of chromatic discrimination was found in patients with CMVR (tritan p<0.0005, red/green p<0.05). The same group had deterioration in achromatic contrast sensitivity at 2.2, 3.4, and 10 cpd (p<0.05). There was correlation between the zone of CMVR with chromatic gratings (tritan r=0.83, p<0.005). No statistically significant difference was found between the HIV+ patients and the controls for all tests (p>0.1). CONCLUSIONS: HIV+ patients with CMVR have a loss of chromatic discrimination and achromatic contrast sensitivity and this may be used to screen HIV+ patients for CMVR.

AIDS-Related Opportunistic Infections↗

Assessment of colour vision as a screening test for sight threatening diabetic retinopathy before loss of vision.

AIM: To assess the effects of sight threatening diabetic retinopathy (STDR) on colour vision and to evaluate automated tritan contrast threshold (TCT) testing for STDR screening before significant visual loss. METHOD: Patients were recruited from a hospital based photographic screening clinic. All subjects underwent best corrected Snellen visual acuity (BCVA) and those with 20/30 vision or worse were excluded. Automated TCT was performed with a computer controlled, cathode ray tube based technique. The system produced a series of sinusoidal, standardised equiluminant chromatic gratings along a tritan confusion axis. Grading of diabetic retinopathy was made by one of the team of experienced ophthalmic registrars (SpR) using slit lamp biomicroscopy and a 78D lens; HbA(1c) and urine albumin were also tested. RESULTS: Patients with STDR had significantly worse TCT despite normal BCVA (p<0.0001). TCT yielded a sensitivity of 100% for detecting diabetic maculopathy and 94% for STDR with a specificity of 95%. Logistic regression analyses showed that TCT (p<0.001) and HbA(1c) (p<0.05) correlated significantly with the presence of STDR but duration of diabetes, urine albumin counts, and BCVA failed to show any significant correlation. No associations between TCT and duration of disease, TCT and HbA(1c), and TCT and urine albumin counts were found. CONCLUSION: Tritan colour vision deficiency was observed in patients with STDR despite their normal BCVA. These results indicate that automated TCT assessment is an effective and clinically viable technique for detecting STDR, particularly diabetic maculopathy, before visual loss.

Adolescent↗