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Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation.

To determine the phenotype of a Japanese family in which retinitis pigmentosa cosegregates with a rhodopsin gene mutation, i.e. an asparagine-to-serine change at codon 15 (Asn-15-Ser), 5 affected and 5 unaffected members of one pedigree underwent several ophthalmic examinations as well as Ganzfeld electroretinography (ERG) and multifocal ERG. Genomic DNA samples were analyzed by PCR amplification, sequencing and restriction enzyme digestion. A codon 15 rhodopsin gene mutation (Asn-15-Ser) was found in all affected members. The region of pigmentary degeneration was localized in the lower hemiretina, and visual field defects corresponded to the retinal pigmentary changes. Scotopic ERG amplitudes, rather than photopic ERG amplitudes, were reduced. Multifocal ERG revealed a low magnitude of response density, even for the upper hemiretina, which showed no bony corpuscle pigmentation. Visual function in sectorial retinitis pigmentosa associated with rhodopsin gene codon 15 mutation is on the basis of the rod-cone dystrophy, regardless of differences in phenotypic expression.

Adult

Long chain polyunsaturated fatty acids and visual function in preterm infants.

Electroretinograms (ERG) were recorded at 40 weeks post-conceptual age (PCA) in 18 infants born prematurely (25-32 weeks gestation). Fatty acid composition of plasma and red cell phospholipids was measured within 4 days of birth and at time of ERG testing, and detailed record was kept of dietary intake. Correlations were seen between percentage intake of breast milk and docosahexaenoic acid (DHA) in both plasma (r = 0.818, P < 0.0001) and red cells (r = 0.534, P = 0.035) and significant differences in fatty acid profiles were seen between infants receiving > 50% and < 50% breast milk. No difference was seen in retinal sensitivity between infants receiving > 50% or < 50% breast milk. A positive correlation was seen between scotopic (rod) b-wave implicit time on ERG and DHA in both plasma (r = 0.733, P = 0.001) and red cells (r = 0.502, P = 0.04). A positive correlation was seen between arachidonic acid and rod ERG amplitude (r = 0.565, P = 0.022) which may reflect the higher AA/DHA ratio in the developing retina. These data did not support our hypothesis that increased dietary DHA results in enhanced retinal maturation. Visual acuity measured at 40 weeks PCA and again 3 months later was similar between groups. While subtle relationships were demonstrated between long chain polyunsaturated fatty acids and visual function, all infants were felt to be within age-appropriate normal range at expected date of delivery and at 3 months corrected age.

Breast Feeding

Improved visual function and attenuation of declines in health-related quality of life after cataract extraction.

OBJECTIVE: To measure the effect of cataract extraction and lens implantation on elderly persons' health-related quality of life and on their ability to perform visual activities. DESIGN: Evaluations of health status were conducted preoperatively and at 3 and 12 months after surgery on patients scheduled for cataract extraction. SETTING: Patients were enrolled from the General Eye Service of the Massachusetts Eye and Ear Infirmary and 33 Boston practices. PATIENTS: The cohort consisted of 464 patients aged 65 years or older who were identified from the surgical schedule of the Massachusetts Eye and Ear Infirmary. At 3 to 12 months after surgery, 458 (99%) of the participants were successfully contacted. Health-related quality of life data were available for 419 (90%) to assess changes after surgery. MAIN OUTCOME MEASURES: Ophthalmologic examinations were performed preoperatively and during the follow-up period. The Activities of Daily Vision Scale (ADVS) and the Medical Outcomes Study 36-item short from (SF-36) were administered before surgery and at 3 and 12 months postoperatively to assess changes in health status. RESULTS: At 12 months after surgery, 95% of patients had improved Snellen visual acuity, 80% had improved ADVS scores, but only 36% had improved SF-36 physical functioning. Average scores on seven of eight SF-36 subscales worsened at 12 months. Patients with improved ADVS scores had significantly smaller declines across all SF-36 dimensions except for role limitations due to emotional problems. CONCLUSION: Improved visual function after cataract surgery was associated with better health-related quality of life, suggesting that age-related declines in health may be attenuated by improvements in visual function.

Activities of Daily Living

Retinal boundaries and visual function in gyrate atrophy.

Three patients with gyrate atrophy of the retina and choroid underwent fundus photoperimetry, the combination of fundus photography and visual field analysis within the same instrument, to examine the correspondence between the funduscopically observed, scalloped margin of remaining retina and the functional limit of the peripheral visual field. The results suggest that near the border between remaining retina and atrophic areas, visual sensitivity falls off quite rapidly, producing perimetric isopters that conform closely to the scalloped retinal margin. In some instances, visual function can be demonstrated in islands of remaining retina that are totally surrounded by atrophic areas. This study demonstrates the usefulness of fundus photoperimetry in following the course of degenerative retinal diseases.

Adult

Visual function in Rett syndrome.

The authors examined refractive error, pattern onset visual evoked potentials, ocular posture and they performed internal and external eye examinations in 11 subjects with Rett syndrome (aged between four and 24 years) and 18 normal controls (aged between six and 20 years). Substantial refractive errors were common in the Rett syndrome group. Spectacle correction had never previously been worn and glasses were provided where appropriate. No subjects had nystagmus or optic nerve pallor and only one was strabismic. All subjects had recognisable and reproducible pattern-onset VEPs and latencies and amplitudes did not differ significantly from those of the controls. All demonstrated VEP thresholds of at least 24'. In contrast to other populations with profound disabilities, people with Rett syndrome have good function of the afferent visual pathways and, in view of their substantial refractive errors, are likely to benefit from spectacle correction.

Adolescent

[Several biochemical signs of loss and restoration of visual function].

With the aid of cytophotometry the author studied the cellular chemistry of neurons (according to the activity of glutamate dehydrogenase) in the III, IV and V layers of the visual cortex in rats during the period of rehabilitation of specific functions following long-term light deprivation. It was demonstrated that a 2-week stay of deprivated animals in conditions of usual light is accompanied by visible normalization of the glutamate dehydrogenase activity in the cortical neurons. However, a complete rehabilitation of the control level was not attained. The study demonstrated differences in the reactions of identical neurons in the IV and V layers to the rehabilitation of specific functions. It is being assumed that the rehabilitation of the visual function may be due to biochemical reconstructions in the monomodel and certain parts of the polymodal neurons in the visual cortex.

Animals

[Testing basic visual functions in the evaluation of extrapyramidal side effects of antipsychotic agents].

One of the cornerstones of antipsychotic therapy is the evaluation of the effective dose that cause minimal extrapyramidal side effects. It is known that the visual system (e. g. the retina) contains dopaminergic cells similarly to the striatum where dopaminergic blockade is crucial in the induction of extrapyramidal symptoms. This rises the possibility that striatal functions can be tested by the evaluation of certain visual functions. This study compared the visual contrast-sensitivity of 20 schizophrenic patients on antipsychotic medication (9 patients were on risperidone, 9 on haloperidol, and 1-1 on zuclopenthixol and fluanxol treatment) to that of normal control subjects, and found significant impairment in the former group. The contrast-sensitivity impairments correlated with the severity of extrapyramidal symptoms. These results suggest that contrast-sensitivity measurements can be useful in the evaluation of neuroleptic threshold in the clinical practice.

Adult

Altering body position affects intraocular pressure and visual function.

Intraocular pressure (IOP) can be altered by changing body position. This report describes two experiments evaluating variations in IOP, as well as neural functioning of the retina and visual cortex (as measured by pattern-reversal electroretinogram and visual evoked potential), associated with whole-body, head-down tilt. The subjects, ten per experiment, were visually normal with IOP less than 19. In the first experiment, IOP elevations were induced by varying the angle of tilt in discrete steps between +90 degrees (upright) and -90 degrees (inverted). In each position IOP was measured and significant elevations (up to 3x baseline) were noted. These elevations were maintained for 1 min during which simultaneous retinal and cortical biopotentials were measured. In the second experiment, 6 degrees head-down tilt was maintained for 2 hr during which time the IOP and both biopotentials were measured repeatedly. Our findings confirm the effect of body position of IOP, while also revealing that head-down tilt produces significant reductions in neurophysiological function at both the retinal and cortical levels. The neural effect is maximized when 6 degrees head-down tilt is maintained for 20 min.

Adult

Prediction of visual function behind cataract using displacement threshold hyperacuity.

Visual acuity and displacement threshold hyperacuity were measured in a group of patients awaiting cataract extraction, and this was repeated several weeks subsequent to surgery. In addition, measurements were made on a group of patients with various ocular pathologies but without the presence of cataract. Displacement thresholds in the cataract group increased only slightly with the severity of the opacity. On the other hand, displacement thresholds for the pathology group showed a marked dependence upon visual acuity--the worse the acuity, the higher the threshold. This results in a clear distinction between vision loss due to optical factors (cataract) and retinal/neural factors. There was a good correlation between pre- and post-operative displacement thresholds in the cataract group, with post-operative thresholds being slightly better than pre-operative thresholds. The results suggest that this technique may offer patients a good indication of the likely quality of vision achieved following cataract extraction.

Aged

Contrast detection in noise: a new method for assessing the visual function in cataract.

The detectability of a signal decreases in the presence of externally added visual noise. A linear relation exists between the energy of a signal at threshold and the spectral density of the added visual noise. This relation, represented by contrast detection in noise function, allows a given loss in contrast sensitivity (CS) to be attributed to an increase in the internal intrinsic noise and/or a decrease in the detection efficiency of the observer. Intrinsic noise gives a measure of the random background noise within the visual system, whereas detection efficiency is a measure of how effectively the observer utilizes the available stimulus information. Recent work shows that neural dysfunction produces a decrease in the detection efficiency, whereas optical deficits produce a change in the intrinsic noise only. We investigated whether the CS loss in cataract can be attributed to either a change in intrinsic noise, in detection efficiency, or both. Contrast detection in noise functions was measured for 10 uniocular cataract patients. Comparison between the two eyes showed no significant difference in detection efficiency, although the intrinsic noise increased significantly in the cataractous eye. The data suggest that detection efficiency may provide a measure of neural visual function behind a cataract and, conversely, that intrinsic noise provides a measure of the visual effect of the cataract itself. We discuss the implications of intrinsic noise as a measure of cataract for both clinical assessment and research.

Aged

Modification of visual functions of the parietal lobe at early age in the monkey.

In addition to the visual pathway ending in the visual cortex, visual information is also processed in the associative areas of the cortex. We have studied the posterior parietal association area (Brodmann's area 7), and in our sample about 40% of the neurons were influenced by visual stimulation or ocular movements. The visually activated neurons in this region in normal adult monkeys have large, binocular receptive fields and they respond well to all moving visual stimuli near the animal. They do not differentiate between different patterns of visual stimuli but respond well to objects of interest, such as food, drinks, new objects, etc. Many visual neurons also respond to somatic stimulation. Preliminary experiments on two young monkeys suggest that the visual input into area 7 is strongly modified by early visual deprivation. In one monkey monocular deprivation lead to total absence of any influence from the deprived eye to area 7. No deprivation effect was observed in the lateral geniculate nucleus of the thalamus and the effect in area 7 was stronger than in the visual cortex (area 17). One monkey raised with bilateral eye closure was behaviourally blind after the opening of the eyes and remained so for the observation period of one month. In area 7 of this monkey the proportion of recording sites responsive to visual stimulation was sharply reduced. In kittens binocular deprivation is known to effect the function of the visual cortex much less than monocular deprivation. It seems possible that at early age inputs representing different sensory systems compete for influence in the associative cortical areas in the same way as there is competition between inputs from the two eyes to the visual cortex.

Age Factors

Magnocellular visual function and children's single word reading.

Recent research has shown that reading disabled children find it unusually difficult to detect flickering or moving visual stimuli, consistent with impaired processing in the magnocellular visual stream. Yet, it remains controversial to suggest that reduced visual sensitivity of this kind might affect children's reading. Here we suggest that when children read, impaired magnocellular function may degrade information about where letters are positioned with respect to each other, leading to reading errors which contain sounds not represented in the printed word. We call these orthographically inconsistent nonsense errors "letter" errors. To test this idea we assessed magnocellular function in a sample of 58 unselected children by using a coherent motion detection task. We then gave these children a single word reading task and found that their "letter" errors were best explained by independent contributions from motion detection (i.e., magnocellular function) and phonological awareness (assessed by a spoonerism task). This result held even when chronological age, reading ability, and IQ were controlled for. These findings suggest that impaired magnocellular visual function, as well as phonological deficits may affect how children read.

Child

[Reduced visual function in relation to compensation questions].

In cases of visual impairment due to an accident it is the ophthalmologist's task to assess the functional loss. For the purposes of legal equality norms have been established for functional loss. Differences in the assessment of disability and loss of integrity in various countries are discussed.

Blindness

[Dynamics of visual functions in the conditions of glow and sodium lighting. II. Time of conscious reaction and visual space-hand localization].

The authors present the results of investigations performed in 20 young persons with normal sight. A trial of evaluation of the strain of the central nervous system in conditions of various kind of lighting was carried out basing on its close connection with the visual hand localization as well as with the time of the conscious reaction. Analyzed was the behaviour of the quoted functions as the time passed during the morning hours and the results of the examinations obtained in conditions of glow and sodium illumination were compared. They suggest a favourable influence of the sodium light on the discussed functions.

Adolescent

Use of the ERG and EOG in evaluating the effect of sleep deprivation on visual function in flying personnel.

The electroretinogram (ERG) and electrooculogram (EOG) are electrophysiological tests employed in ophthalmology to diagnose degeneration or injury to the outer half of the retina, including the rods and cones of the visual system. This pilot study was undertaken to determine if sleep deprivation of more than 24 h in rated flying personnel may show an abnormality in retinal function as measured by the ERG and/or EOG. This may give insight to the visual function in flying personnel on deployment or other long missions where uninterrupted sleep may be a problem. The results of this study showed that some subjects deprived of sleep exhibited a statistically significant variance in their EOG ratios as compared to a nondeprived control group. No significant changes in ERG were detected. Principles and theory of electrophysiological testing in ophthalmology are presented.

Adult

The effect of devascularization of the visual cortex on visual function in the rabbit.

The role of the visual cortex in brightness and pattern vision was re-examined in the rabbit. Animals were trained on both a brightness and a horizontal-vertical striation discrimination. Bilateral removal of the dura mater overlying the entire visual cortex produced no impairments in either brightness or pattern vision. When the visual cortex was devascularized by removal of the pia mater bilaterally, total loss of pattern vision was found with no impairment of brightness discrimination ability. The significance of the finding that the effects of slowly developing degenerative lesions are the same as those of surgical ablation was discussed.

Animals

[Automatic evaluation of visual functions using a computer].

Many different tests for visual acuity, glare and contrast sensitivity, even by computer, are known. We developed a new computer system that is directed by the patient who works with a joystick. A special overlay computer program receives the answers given by the joystick, calculates the information on the screen and provides a new combination of background illumination, optotype position, color, contrast and enlargement. With this automatic test we examined cataract patients before and after the operation. After the operation the patients have better visual acuity and less sensitivity to glare- and contrast in both the dark and light.

Cataract

Simple clinical techniques to evaluate visual function in patients with early cataract.

Among the 80 subjects who were recruited with normal retinal and neural function, 54 had cataract and a visual acuity (VA) better than 6/24. The 26 age-matched subjects had clear media. Contrast sensitivity (CS) at low and intermediate spatial frequencies was measured using the Pelli-Robson letter chart. Two measures of glare disability (GD) were obtained using the Mentor Brightness Acuity Tester (BAT) in conjunction with a logMAR VA chart and the Pelli-Robson chart. Although CS is predominantly affected at high spatial frequencies in early cataract, we found that some subjects had reduced scores on the Pelli-Robson chart. This CS loss could not be predicted from VA measurements and was particularly found in subjects with posterior subcapsular cataract. High GD scores were found in a number of subjects with relatively good VA and could not be predicted from results of VA or CS. We suggest that CS and GD measurements using the Pelli-Robson chart and the BAT provide valuable information regarding the management of patients with early cataract.

Aged