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A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".

AIMS: To characterise the detailed phenotype of "cone dystrophy with supernormal rod ERG" in a case series of 10 patients. METHODS: 10 affected patients were examined clinically and underwent colour fundus photography, with nine undergoing detailed electrophysiological testing. Five patients were assessed further with fundus autofluorescence (AF) imaging, automated photopic and dark adapted perimetry, and dark adaptometry. Detailed colour vision assessment was performed in six subjects. Blood samples were taken from four patients for DNA extraction and mutation screening of NR2E3 was undertaken. RESULTS: The onset of symptoms was in the first and second decades of life. Subjects presented with reduced central vision and marked photophobia. All individuals were myopic and colour vision testing revealed severely reduced colour discrimination predominantly along the red-green axes; tritan colour vision was relatively well preserved. Nyctalopia is a later feature of the disorder. Funduscopy and AF imaging revealed a range of macular appearances. There was electrophysiological evidence of marked macular dysfunction, reduced and delayed cone responses, and supernormal and delayed rod responses. Photopic and dark adapted perimetry revealed central scotomata with widespread peripheral sensitivity loss. No disease causing sequence variants in NR2E3 were identified. CONCLUSIONS: The largest case series to date has been described of the clinical, psychophysical and electrophysiological characteristics of this unusual cone dystrophy with supernormal rod responses. Electrophysiological data were consistent with a post-phototransduction, but pre-inner nuclear layer, site of dysfunction. While the definitive diagnosis can only be made with electrophysiological testing, several characteristics that may increase suspicion of this diagnosis are presented.

Adolescent↗

Color vision in epileptic adolescents treated with valproate and carbamazepine.

OBJECTIVE: The aims of our study were to evaluate whether deficits in color vision exist in epileptic adolescents, to study if monotherapy with valproic acid (VPA) and carbamazepine (CBZ) can affect color vision, and to determine the possible relationship between abnormal color vision tests and AEDs dosage and their serum concentrations. PATIENTS: We examined 45 epileptic patients before the beginning of therapy and after 1 year of VPA or CBZ monotherapy and 40 sex- and age-matched healthy controls. METHODS: Color vision was evaluated with Farnsworth Munsell 100 (FM100) hue test and achromatic and short-wavelength automated perimetry (SWAP). STATISTICAL ANALYSIS: To evaluate intergroup differences we used ANOVA with Scheffe's post hoc test, when appropriate. Repeated measures ANOVA was used to evaluate the intragroup modifications of total error score (TES) and perimetric threshold during the follow-up. Pearson's correlation test was performed to correlate chromatic sense and perimetric data and AEDs dosage and serum concentrations. RESULTS: Before the beginning of therapy, there were no differences in central color vision and SWAP between controls and epileptic patients. After 1 year, patients treated with VPA or CBZ showed a deficit in FM100 hue test and SWAP parameters while no significant deficit was found in achromatic perimetry. In particular, with the FM100 hue test a higher number of errors was found in both groups of patients (CBZ patients: 166.00 +/- 27.72 TES; VPA patients: 151.19 +/- 44.09, P < 0.001) in comparison with controls (controls: 109.29 +/- 24.73) and baseline values (CBZ patients: 110.65 +/- 22.9; VPA patients 107.43 +/- 21.70). With SWAP patients of both groups showed significant variation of foveal threshold (controls: 21.07 +/- 2.01 dB; CBZ patients: 19.35 +/- 1.32, P < 0.001; VPA patients: 18.88 +/- 1.89, P < 0.001), full-field mean threshold perimetric sensitivity (controls: 18.50 +/- 1.24 dB; CBZ patients: 16.60 +/- 1.47, P < 0.001; VPA patients: 16.23 +/- 1.55, P < 0.001) and mean threshold perimetric sensitivity of the three evaluated subareas of the visual field (area 1 controls: 21.01 +/- 1.15; CBZ patients: 19.45 +/- 1.74, P = 0.001; VPA patients: 18.25 +/- 1.61, P < 0.001; area 2 controls: 18.40 +/- 1.43; CBZ patients: 16.07 +/- 1.58, P +/- 0.001; VPA patients: 16.13 +/- 1.46, P = 0.001; area 3 controls: 17.20 +/- 1.49; CBZ patients: 14.28 +/- 1.51, P < 0.001; VPA patients: 14.31 +/- 2.90, P = 0.001). CONCLUSIONS: Our study demonstrates that treatment with VPA or CBZ can affect significantly both central and paracentral color vision after a short treatment period.

Adolescent↗

Retinal function abnormalities in patients treated with vigabatrin.

OBJECTIVE: To evaluate central and peripheral retinal function in patients treated with vigabatrin, an antiepileptic drug associated with peripheral visual field constriction (VFC). METHODS: Six patients with epilepsy treated with vigabatrin as add-on therapy for at least 3 years were included in this observational case series. All patients underwent a clinical ophthalmologic examination, color vision testing, standard perimetry, and full-field and focal foveal cone electroretinography. Four patients, 3 of whom had VFC, completed specialized computerized static light- and dark-adapted perimetry. RESULTS: In 9 of 11 eyes tested, foveal cone electroretinographic amplitudes were at or below the lower limit of normal. Dark-adapted perimetry demonstrated abnormal rod-derived visual fields in the 3 patients with vigabatrin-attributed VFC, whereas rod-derived thresholds were within normal limits throughout the visual field in the patient who did not have VFC. CONCLUSIONS: Our results suggest that vigabatrin not only impairs peripheral cone-derived function as manifested by VFC but also affects foveal cone electroretinographic amplitudes and rod-derived visual fields. The clinical dilemma regarding the use of vigabatrin therapy is further complicated since central as well as peripheral visual function seems to be adversely affected.

Adolescent↗

Color vision and dentistry.

Color vision is a critical component of restorative and esthetic dentistry, but dentists, as a group, do not have their color vision tested at any time during their careers. A study was undertaken to ascertain the color-vision status of practicing dental personnel at the University of Tennessee, College of Dentistry. One hundred fifty individuals, 75 men and 75 women, were screened. The results corroborated the existing medical data for the general population. It was found that 9.3% of the men and none of the women exhibited color-vision defect. Since most dentists are male, this study demonstrates an area of potential weakness for some practitioners. Once a color-vision problem is found, it is simple to remedy by employing a team approach to shade matching or mechanical means of matching shades (by the practitioner). No ethnic or racial distinctions were detected, although these have been reported in other studies.

Adult↗

Neuropsychological dysfunction, mood disturbance, and emotional status of munitions workers.

The objective of this study was to compare the neuropsychological function, emotional status, visual function, and illness prevalence of 265 former munitions plant workers (M age = 56.7 years, M years of education = 12.07; 201 African American, 64 White) exposed to organic solvents for an average of 17.03 years with that of a group of 77 unexposed controls (M age = 51.3 years, M years of education = 13.07; 30 African American, 47 White). Neuropsychological tests were selected from the World Health Organization Neurobehavioral Core Test Battery, Wechsler Adult Intelligence Scale-III (WAIS-III), and Wechsler Memory Scale-III (WMS-III) and also included the Brief Symptom Inventory, Profile of Mood States, Beck Anxiety Inventory, and Beck Depression Inventory. Vision tests included the Lanthony d-15 color vision, the Vistech Contrast Sensitivity, and the Snellen. The exposed group showed greater deficits than the controls in verbal learning (WMS-III Logical Memory I Learning Slope and Word Lists I Recall), visuomotor tracking speed (Cancellation H, WAIS-III Digit Symbol-Coding) and psychomotor function (Dynamometer and Grooved Pegboard), and dysfunction in emotional status, illness prevalence, and visual function. African American workers reported higher levels of exposure than Whites. Exposure relations demonstrated increased neuropsychological dysfunction with increased exposure.

Adult↗

Visual deficits and recovery following monocular lid closure in a prosimian primate.

The behavioral consequences of long-term monocular lid closure in 6 deprived and 2 normal prosimian primates (Galago crassicaudatus) were examined using a visual field perimetry technique and a variety of visuomotor tests. Deprived galagos had their right lid sutured either within 8 (n = 4) or 38 (n = 2) days postpartum and were reared under these conditions for at least 8 months. Normal galagos responded briskly on all visuomotor tests including tracking, response to visual threat, ability to descend from a platform, and obstacle avoidance. Perimetry tests of these animals showed that the visual field with both eyes open was 180 degrees while each eye tested individually had a 135 degrees field. Deprived galagos tested with their experienced eye exhibited normal visuomotor behavior and normal visual fields. Following reverse suture all deprived animals behaved initially as if blind on all tests. Over the next 4-8 weeks these animals showed some limited recovery on the visuomotor tasks. Tests of perimetry indicated that by the end of four weeks of testing, vision was limited to the deprived monocular segment where it remained stable to the end of the testing period. With both eyes open, deprived galagos exhibited a normal 180 degrees visual field. Curiously, however, when stimuli were introduced simultaneously in corresponding points in both monocular segments of the field, the majority of orienting responses of deprived subjects favored the right deprived eye. Under similar testing conditions one normal subject favored its right eye and the other its left eye. The reversibility of monocular deprivation was explored further either by extending the period of forced use of the deprived eye in one animal or by removing the non-deprived eye in another animal. No further improvement in visual field perimetry was seen following a longer period of forced use of the deprived eye. In contrast, a substantial increase in the visual field could be demonstrated one month following removal of the originally experienced eye: the deprived eye field expanded to include the entire 90 degrees ipsilateral hemifield. The contralateral field of the deprived eye, however, continued to remain blind even after one year. These behavioral results suggest that although the original binocular competitive disadvantage suffered by the deprived eye during development is relatively permanent, it can partially be ameliorated by late removal of the non-deprived eye.

Animals↗

Chromatic and achromatic transient VEPs in adults with Down syndrome.

Oculo-visual abnormalities such as strabismus and high refractive error are common in people with Down syndrome, and account in large part for reduced visual function in this group. In the absence of such abnormalities, however, some spatial vision deficits persist, probably reflecting abnormal function of the neural visual pathway in this population. In addition, colour vision abnormalities are reportedly common in subjects with Down syndrome. We recorded transient visual evoked potentials in response to black-white and chromatic stimuli, in seven subjects with Down syndrome and 33 controls, to investigate function of the visual pathways underpinning spatial and chromatic visual function in Down syndrome. Our findings indicate, in agreement with previous studies, that retino-striate achromatic and chromatic processing in Down syndrome are abnormal. We find, however, that abnormal retino-striate processing of chromatic signals in this group may not give rise to colour vision deficits detected by the Colour Vision Test Made Easy or the City University test.

Adult↗

High myopia with cone dysfunction.

All 3 children, 2 boys and 1 girl (the probands), in a family had high myopia and subnormal visual acuities. The boys had high myopia in both eyes, the girl had high myopia in 1 eye and low myopia in the other eye. Both of the boys had a protanomalous colour vision defect. The colour vision testing of the high myopic eye of the girl was not successful, the other eye had normal colour vision. In the electroretinogram examination, both cone and rod responses were decreased in 2 of the children. In the family study, results of an eye examination of 30 relatives were available. No other cases of high myopia or subnormal visual acuities were found. The father of the children, 1 of the paternal relatives, and 5 of the maternal relatives had low myopia. One maternal male cousin of the probands had a protanomalous colour vision defect. In the genealogical study, no relationship was found between the families of the father and the mother of the probands going back to the fifth generation. The heredity of this disorder is difficult to define. It could be autosomal dominant or recessive if the myopia only are taken into consideration. If the high myopias and cone dysfunction are considered to be parts of the same syndrome, the heredity could be x-chromosomal recessive or autosomal recessive.

Adolescent↗

Long term follow-up of birdshot chorioretinopathy.

BACKGROUND: To report the long term follow-up of a case of Birdshot Chorioretinopathy treated with steroids and cyclosporine during three years and followed for twenty years. METHODS: The patient was monitored with Snellen visual acuity, slit lamp examination, perimetry, colour vision test, fluorescein angiography, electroretinogram (ERG) and electrooculogram (EOG). RESULTS: The retinal alterations progressed despite minimization of the intraocular inflammation. Vision dropped, perimetric and severe colour vision alterations appeared and the patient complained of nyctalopia. CONCLUSIONS: The retinal findings in our case treated during three years resemble twenty years later tapetoretinal dystrophy and evoke the natural evolution of Birdshot Chorioretinopathy. The therapeutic approach was either inadequate due to early interruption or to inefficacy on the mechanisms of the retinal alterations.

Adrenal Cortex Hormones↗

Color discrimination in patients with keratoconjunctivitis sicca before and after artificial tear application.

BACKGROUND: The precorneal tear film is of decisive importance for the optical quality of the cornea. Poor stability of this film causes not only dry eye symptoms, but also has negative effects on optical functions of the eye, as previous studies on visual acuity, field test performance and contrast sensitivity have shown. METHODS: 60 patients with dry eyes randomized into 2 groups of 30 underwent color vision testing with the Lanthony Desaturated 15 Hue test before and after instillation of artificial tear (test group) or physiological saline (control group) drops. RESULTS: The improvement in color discrimination in the group given artificial tear treatment was found to be slightly better than in the saline group but in both groups this improvement was not of statistical significance. CONCLUSION: Even though an unstable tear film adversely affects the optics of the eye and even mildly degraded optics can affect spatial visual tasks, color discrimination performance on tasks such as the Lanthony D-15 test does not appear to be markedly impaired.

Adult↗

[Visual function requirements in modern aviation].

The authors describe aviation ophthalmology as a typical ergoophthalmic discipline as regards the sphere of interest as well as with regard to its preventive trend. The visual analyzer is a very exposed sense which can be modified by some dynamic effects of flight to such an extent that they may restrict the pilot's activities and consequently also the safety of the flight. Specific factors of flight which comprise also aerogenic hypoxia, hypobarism, overloading, vibrations and the consequences of impaired relations of the different senses may be manifested by changes of the perception of light, colour, visual acuity, perception of contrasts of the visual field etc. The most modern aviation technique puts some so far unusual demands on vision tested by means of complicated psychophysiological tests. Only the future will show which tests should be included among routine methods of aviation ophthalmology and which tests will be restricted only to experimental work.

Aerospace Medicine↗

Retinal function abnormalities in membranoproliferative glomerulonephritis type II.

PURPOSE: To characterize retinal electrophysiologic and psychophysical abnormalities associated with membranoproliferative glomerulonephritis type II. METHODS: Three adults with membranoproliferative glomerulonephritis type II were studied. Retinal function was measured psychophysically (automated perimetry, Farnsworth D-15 color vision testing, and dark adaptometry) and electrophysiologically (full-field flash electroretinography and electro-oculography). RESULTS: Two symptomatic individuals had prominent drusenlike deposits and retinal pigment epithelial disturbances, findings characteristic of membranoproliferative glomerulonephritis type II retinopathy. These individuals had mild visual field and color vision abnormalities, prolonged dark adaptation, and delayed electroretinographic dark-adapted dim and bright flash responses of normal amplitude. The electro-oculogram of the most severely affected individual was abnormal. The third individual who was asymptomatic had the mildest fundus abnormalities and exhibited normal psychophysical and electrophysiologic responses. CONCLUSIONS: Membranoproliferative glomerulonephritis type II retinopathy may be associated with symptomatic and measurable psychophysical and electrophysiologic abnormalities of retinal function.

Adult↗

[Color vision under different luminosity in various fundus diseases].

Reports on the utilization of the color vision test as a method for detecting early abnormality in fundus diseases have been published. The author performed the 100-hue test at five luminous stage levels set between 10 and 2000 lux in cases of glaucoma, diabetic retinopathy and central chorioretinopathy. The progressive degree of each disease and the level of disorder seen in color vision were assessed comparatively at each luminous level to determine adequate luminosity for performing the 100-hue test. For classification of the degree of progression in each disease, visual acuity, visual field and C/D ratio were used for glaucoma. Visual acuity, type of retinopathy and the period of contracting the disease were used for diabetic retinopathy, and visual acuity was used for central chorioretinopathy. As a result, the total error score in the 100-hue test closely correlated to the degree of progression of each disease and the luminosity for performing the most effective 100-hue test was found to be 100 lux.

Adult↗

Repeatability of standardized tests of functional impairment and well-being in older people in a rehabilitation setting.

PURPOSE: The aim of this study was to establish the repeatability of standardized tests of vision (Snellen chart testing), hearing (whispered voice test), communication (Frenchay aphasia screening test), loneliness (UCLA loneliness scale), morale (Philadelphia geriatric centre morale scale), and a multidimensional instrument (EASY-care) when used in a rehabilitation setting. METHOD: The tests were administered by a research nurse to 50 older subjects attending a day rehabilitation unit, with repeat administration one or two weeks later by a nurse on the unit. Kappa statistics were used for level of agreement for categorized data and interclass correlation coefficient were used for data based on scores. RESULTS: Moderate repeatability for Snellen chart testing. whispered voice test; good to excellent for the FAST, UCLA loneliness scale and Philadelphia geriatric centre morale scale. Moderate to very good repeatability for all EASY-care items except communication, feeding, use of telephone and cognitive impairment, which had poor spread of data. CONCLUSIONS: Poor repeatability for commonly used tests of vision and hearing is worrying, whereas the positive results for the other tests will increase confidence in using them more in routine practice.

Aged↗

[General criteria of working ability in subjects with color vision defects].

A correct evaluation of the colour vision is important to make decisions concerning the recruitment in numerous occupations that require colour discrimination. In order to identify valid pre-employment colour vision testing methods, tests actually used and in particular the Ishihara test are considered. After a careful examination we conclude that candidates who pass the Ishihara test have sufficient colour perception to meet ordinary needs and further trade test are not necessary. Nevertheless we do not consider sufficient to rely on the Ishihara test alone to reject a candidate. The diagnostic algorihm proposed is recommended in pre-employment medical examinations for distinguishing people with normal colour vision, slight or sever colour deficiency.

Algorithms↗

Vestibular plasticity following orbital spaceflight: recovery from postflight postural instability.

Results of previous studies suggested that the vestibular mediated postural instability observed in astronauts upon return to earth from orbital spaceflight may be exacerbated by an increased weighting of visual inputs for spatial orientation and control of movement. This study was performed to better understand the roles of visual and somatosensory contributions to recovery of normal sensori-motor postural control in returning astronauts. Preflight and postflight, 23 astronaut volunteers were presented randomly with three trials of six sensory organization test (SOT) conditions in the EquiTest system test battery. Sagittal plane center-of-gravity (COG) excursions computed from ground reaction forces were significantly higher on landing day than preflight for those test conditions presenting sway-referenced visual and/or somatosensory orientation cues. The ratio of summed peak-to-peak COG sway amplitudes on the two sway-referenced vision tests (SOTs 3 + 6) compared to the two eyes closed tests (SOTs 2 + 5) was increased on landing day, indicating an increased reliance on visual orientation cues for postural control. The ratio of peak-to-peak COG excursions on sway-referenced surfaces (SOTs 4, 5 & 6) to an earth fixed support surfaces (SOTs 1, 2 & 3) increased even more after landing suggesting primary reliance on somatosensory orientation cues for recovery of postflight postural stability. Readaptation to sway-referenced support surfaces took longer than readaptation to sway-referenced vision. The increased reliance on visual and somatosensory inputs disappeared in all astronauts 4-8 days following return to earth.

Astronauts↗