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PubMed1983

Reaching for rattles: a preliminary study of contrast sensitivity in 7-10 month old infants.

Contrast sensitivity for a 3 cycles deg-1 sinusoidal grating in 7-10 month old infants was tested by presenting gratings and uniform fields on cylinders, with the former providing auditory reinforcement when the infant picked them up. The method shows that a contrast as low as 7.5% can commonly be detected at this age, compared with 1-2% for adults under comparable conditions. However, as the development of hand preferences with the task as an indicator of visual sensitivity, it is concluded that this method is not in its present form suitable for vision testing on a wide scale or in a clinical setting.

Discrimination Learning↗
PubMed1987

An averaging method for the interpretation of the Farnsworth-Munsell 100-Hue Test--II. Colour vision defects acquired in diabetic retinopathy.

The Farnsworth-Munsell 100-Hue test is frequently used to assess acquired colour vision defects. In diabetic retinopathy the acquired defect is a mild or severe type III (Tritan) defect which may be coupled with poor overall hue discrimination. In consequence, error scores are often high and the 100-Hue polar diagram is difficult to interpret. In this study the averaging method of analysis proposed by Dain and Birch is used to examine 120 100-Hue plots obtained by patients with proliferative diabetic retinopathy. These plots have either moderate (150-300) or high error scores (greater than 300). The method of analysis is found to be effective in determining whether a Tritan defect is present or not.

Adult↗
PubMed1982

Familial intermittent diplopia: a report of two cases.

The presence of sufficient muscle balance and bifovial fixation to prevent a break in fusion resulting in diplopia, even under conditions of hypoxia, fatigue, stress, and peripheral gaze, has been of concern in aviation medicine since 1917. Considerable resources are still expended obtaining, reporting, and storing test results, using procedures that undoubtedly exceed the skills of many examiners, when denials are rare, few inflight breaks in fusion have ever been reported, and most known cases of diplopia are from the history. We have recently examined a 54-yr-old employee with a 5-yr history of several daily episodes of incapacitating diplopia, and we have information about his 48-yr-old brother who has a similar history. When asymptomatic, both have normal vision test results. Detection was from the histories; the diagnosis remains uncertain. The ease of concealment, rare test value, and prevalent examiner skills are of concern. The importance of the history is reaffirmed.

Diplopia↗
PubMed2005

Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.

PURPOSE: We investigated the ophthalmic features of a mild form of enhanced S-cone syndrome (ESCS) in a 33-year-old Japanese female proband and 3 unaffected family members. A genetic analysis was performed. DESIGN: Genetic and observational case study. METHODS: Fundus examinations, optical coherence tomography (OCT), Goldmann visual field (VF) perimetry, color vision tests, spectral sensitivity, and full-field and spectral electroretinography (ERG) were performed. Mutation screening of the NR2E3 gene, which encodes a photoreceptor-specific orphan nuclear receptor, was performed with polymerase chain reaction amplification and direct sequencing. MAIN OUTCOME MEASURES: Mutations in the NR2E3 gene, fundus photographs, OCT images, VFs, spectral sensitivity, and ERG findings. RESULTS: The diagnosis of ESCS was made based on the distinctive spectral ERG findings: hypersensitivity to blue stimuli and hyposensitivity to red stimuli. The proband had good visual acuity, normal color vision, good central VFs, and nearly normal spectral sensitivity. Funduscopy showed degenerative lesions in the vascular arcades to the midperipheral retina. The OCT images showed a morphologically normal macular thickness. In the full-field ERG, low amplitudes of rod b-waves were detected. Waveforms between rod-plus-cone and cone ERGs were very similar. Mutation analysis identified 2 novel compound heterozygous missense mutations, p.R104Q and p.R334G, which reside in the DNA-binding domain (DBD) and ligand-binding domain (LBD), respectively. The unaffected parents carried one of these mutations each, consistent with autosomal recessive transmission. CONCLUSIONS: Our study suggests that the expression of these 2 mutants of NR2E3, acting as a dimer, is correlated with a mild form of ESCS in that full foveal function and retinal laminar structure are maintained, and certain rod responses are present. This may be explained by the possibility that the heterodimers encoded by the 2 mutant alleles retain certain NR2E3 functions through the respective intact DBD and LBD.

Adult↗
PubMedDate not supplied

Ophthalmologic findings in fifteen patients with Wolfram syndrome.

PURPOSE: To look for ophthalmologic abnormalities in 15 patients with Wolfram syndrome, also known as DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). METHODS: Fifteen patients from four inbred families diagnosed as having Wolfram syndrome at the National Center for Diabetes, Endocrinology and Genetics, in Amman, Jordan, were evaluated ophthalmologically. Their examination included best-corrected visual acuity, color vision testing, pupillary light reflexes, slit-lamp biomicroscopy and fundus examination. Fundus fluorescein angiography was done in all patients. RESULTS: The prevalence of optic atrophy was (93.3%), colordefect (92.9%), cataract (66.6%), pigmentary retinopathy (30%) and diabetic retinopathy (20%). Abnormal pupillary light reflexes and nystagmus were also reported. CONCLUSIONS: Although ourgroup of patients was genetically heterogeneous, the ophthalmic findings are consistent with those reported in other series, except for cataract which was highly prevalent but mild and did not contribute significantly to loss of vision.

Adolescent↗
PubMed1990

[Polymyalgia induced by topical minoxidil].

Topical minoxidil, used in the treatment of baldness, has been commercially available since 1987. Its systemic side effects are rare. We observed an as yet unreported "polymyalgia syndrome" in four otherwise healthy males whose sole medication was topically applied minoxidil. They experienced fatigue, weight loss and severe pain in the shoulders and pelvic girdle, suggesting connective tissue disease. Three patients had a transient rise in liver enzymes, while other laboratory analyses remained normal. Tritanomaly was detected in two patients who underwent systematic color vision testing. All symptoms disappeared after withdrawal of minoxidil. Rechallenge was positive once in one patient and twice in another. The mechanism of this side effect remains to be determined.

Administration, Topical↗
PubMed1999

Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.

PURPOSE: To describe unusual macular abnormalities in a family with blue cone monochromacy (BCM, or X-linked incomplete achromatopsia) and deletion of about 9.5 kb comprising part of the red pigment gene and the region upstream of the red pigment gene. METHODS: The molecular structure of the red and green pigment genes and the locus control region (LCR) upstream of the red gene were studied for deletions, rearrangements and point mutations by Southern blot analysis and PCR. Four affected males (ages 33, 45, 51, and 59) and a carrier female (age 58) were examined by funduscopy and fluorescein angiography. Extensive color vision testing as well as rod and cone electroretinography (ERG) were performed on two of them. RESULTS: Analysis showed that the 6 kb proximal red gene region, exon 1 and about 3.1 kb of intron 1 of the red gene are deleted in this family. Exons 2-6 of the red gene, all the exons of the green gene and the Tex 28 gene were present. Four affected males had bilateral macular changes, including three with overt atrophy. All had visual acuity of 20/200 and their color vision was typical for BCM, with the absence of long- and middle-wavelength sensitive cone function. The ERG showed normal rod responses, whereas the photopic cone and 30-Hz flicker responses were >95% reduced. CONCLUSIONS: We report the unusual association between macular atrophy and BCM resulting from the loss of an approximately 9.5 kb region encompassing the LCR, proximal red gene promoter elements and exon 1 of the red gene. However, loss of the LCR and promoter is not sufficient to explain the phenotype since we have observed other BCM families with similar deletions who do not exhibit macular changes.

Adult↗
PubMed1991

Screening recommendations for the elderly.

BACKGROUND: Studies have documented the potential contributions of preventive health care programs. Yet little is known about which screening tests should be included in public health programs for older persons. This study offers recommendations regarding these tests. METHODS: The recommendations come from synthesizing the findings of the US Preventive Services Task Force, the literature, and the consensus of experts in geriatrics, gerontology, and health policy research. The literature was evaluated to identify methodologically sound studies of the prevalence of selected disorders and benefits and availability of screening procedures for those disorders. Experts from various fields specializing in the care of the elderly formed panels to assist in evaluating the literature and providing further information from gerontological and public health perspectives. RESULTS: We recommend vision testing for refractive error; inspection of the skin surface for fungal infection and skin cancer, drug eruptions, and xerosis; a history for symptoms of xerosis; audiometric testing for presbycusis; surveys for hearing loss; otoscopic inspection for cerumen impaction; dental examination for caries; measurement of blood pressure for hypertension; and breast examination and mammography for cancer. CONCLUSIONS: Our study suggests that these screening procedures are useful for public health screening programs. More information is needed on the effects of screening services on the health and functioning of older persons.

Aged↗
PubMed2005

Aviation-relevent epidemiology of color vision deficiency.

INTRODUCTION: The Colour Vision Study Group of Transport Canada undertook a prevalence review to ascertain the degree and type of color vision deficiency (CVD) common in different populations. This was performed as a first step toward establishing whether a bone fide occupational requirement for color vision in aviation can be determined. LITERATURE SEARCH: Peer-reviewed articles with large populations and appropriate methodology for measuring CVD were assessed. Those pertaining to congenital CVD were cross-sectional prevalence studies with greater than 100 subjects assessed with a combination of pseudoisochromatic plates (PIPs) and Farnsworth D15 and/or an anomaloscope. Of 162 papers reviewed, 36 met these criteria for inclusion in the congenital CVD section. Acquired CVD papers were included based on the quality of color vision tests employed. CONGENITAL CVD: Data on congenital and acquired CVD are presented separately in parts 1 and 2. Part 1 demonstrates that although the prevalence numbers for North American and European populations are consistent with those reported in reference texts, congenital CVD is actually less prevalent in Asian, African, and Native populations. Therefore, the reported overall 8% prevalence of CVD in men applies only to Euro-Caucasians and is significantly lower in other racial groups. Possible evolutionary implications of dichromatism in humans are explored. ACQUIRED CVD: In this section the current understanding of acquired color vision deficiency, with an estimated prevalence ranging from 5 to 15% (51,95), is reviewed. Acquired CVD is frequently associated with significant impairment of visual acuity and/or visual field. However, many ocular diseases and drugs do primarily affect color vision, independent of other visual function, and one must remain vigilant to their presence. CONCLUSION: Congenital CVD is present in a consequential percentage of men, but considerable variability exists in different populations (2-8%). Acquired CVD may elude detection, but if severe is also associated with loss of visual acuity and/or visual field. Senescence remains the most common and increasingly prevalent cause for acquired CVD.

Animals↗
PubMed2001

Development of a reading speed test for potential-vision measurements.

PURPOSE: Previous studies suggest that optimal reading speed is unaffected by cataract, yet is significantly reduced in age-related macular degeneration (ARMD ). This raises the question of whether a reading speed test could be developed to assess potential vision after cataract surgery. METHODS: Nineteen subjects with cataract, 15 with ARMD, and 13 control subjects with normal, healthy eyes read Bailey-Lovie word charts aloud, and subsequently, critical print size and optimal reading speed were calculated. Measurements were also taken with the charts in reversed-contrast polarity and after pupillary dilation. RESULTS: Although the subjects with cataract had reduced word acuity and increased critical print size, optimal reading speed was similar to that of the control group at a mean of approximately 100 wpm. Optimal reading speed in the subjects with ARMD was substantially worse (mean of 39 wpm). Reversing the contrast polarity of the charts slightly increased the word acuity and optimal reading speed of the subjects with cataract. CONCLUSIONS: The results suggest that optimal reading speed would be useful as a potential-vision test. The proposed test would use text size of at least 1.32 degrees (1.2 log minimum angle of resolution [logMAR]), and pupil dilation would be unnecessary. A reading test with black letters on a white background would be adequate, because charts with reversed-contrast polarity made minimal difference in reading speed.

Aged↗
PubMedDate not supplied

Sensory acuity and reasoning in delusional disorder.

Systematic research on delusional disorder (DD) is limited. The goal of this study was to assess DD patients in the following areas: sensory capacities, decision-making style, and complex reasoning. Ten DD patients and 10 matched normal controls completed the following (1) smell, taste, and vision testing; (2) a probabilistic inference test in which subjects made probability decisions; and (3) a gambling task assessing complex reasoning. No significant difference was found between DD subjects and normals for taste acuity, olfactory acuity, or olfactory discrimination. No difference in visual acuity was noted, but sample size was limited. In addition, DD subjects required significantly less data to make probability decisions than normal controls. Despite using less data, DD subjects were as certain as controls regarding the accuracy of their decisions. As for complex reasoning, DD subjects performed as well as normal controls, but tended to surmise the purpose of the task sooner than normals, a difference that approached significance. In conclusion, these results suggest no differences between DD and normal subjects regarding olfaction, taste, and vision. The reasoning studies suggest that DD subjects may have a "cognitive set" that predisposes them to make conclusions with significantly less data than normals. Further, the study suggests that this reasoning difference generalizes to events outside the DD subjects' delusional realm and can be evoked in an experimental environment.

Adult↗
PubMed1986

Recording pattern visual evoked potentials under chloral hydrate sedation.

Accurate assessment of visual function in infants and preverbal children is difficult because of the dependence on vision tests that require the patient's cooperation. In an attempt to resolve this problem, we evaluated pattern visual evoked potentials (PVEPs) obtained on infants under chloral hydrate sedation. Ten patients were studied--four with unilateral amblyopia, three with suspected amblyopia, and three without amblyopia. Patients with amblyopia showed robust and reproducible responses from the sound eye, while responses from the amblyopic eye were significantly diminished (amplitude ratio less than or equal to 0.63). The PVEP responses from patients without amblyopia were large in amplitude and symmetrical between fellow eyes (amplitude ratio greater than 0.9). In two eyes with normal vision, optically fogging the patterned stimulus image substantially reduced the PVEP response, establishing a sensitivity to pattern images rather than changes in the overall luminance. We have thus determined that the PVEP can be reliably obtained under chloral hydrate sedation and that these responses, like PVEP responses taken in the awake state, reflect the presence of amblyopia and image clarity. Use of the PVEP with chloral hydrate sedation may prove clinically useful for detecting amblyopia in uncooperative infants and children.

Amblyopia↗
PubMed1988

Dysthyroid optic neuropathy. The crowded orbital apex syndrome.

The authors have reviewed the clinical presentation, visual fields, color vision testing, visual-evoked potentials, and computed tomographic (CT) findings of 58 patients (95 eyes) with dysthyroid optic neuropathy. The authors compared these findings to a control group of 60 patients (119 eyes) with thyroid eye disease who underwent CT scanning and did not exhibit evidence of optic neuropathy. Clinically, dysthyroid optic neuropathy is an insidious disease; when compared with the usual Graves' orbitopathy patient, the optic neuropathy group presented at a later age and with a later onset of thyroid eye disease. The patients in this group were more likely to be male and/or diabetic, and often presented with desaturation of color vision. Asymmetrical extraocular muscle restriction and vertical tropias were more frequent in the optic neuropathy group. The most sensitive indicators of optic nerve dysfunction appeared to be visual-evoked potentials and color vision. Computed tomographic studies confirmed that apical orbital crowding was a characteristic feature of optic neuropathy. These findings should alert the clinician to a more aggressive approach to these patients.

Adult↗
PubMed1992

Atypical retinitis pigmentosa: a report of three cases.

We report three cases of patients with atypical retinitis pigmentosa (RP): sector bilateral, sector unilateral, and inverse. Clinical and functional features of perimetry, color vision testing, adaptometry, electroretinography, fluorangiography, and audiometry are described. One patient had isolated RP; the others had syndromic RP, combined with defective hearing and celiac disease. Two of these patients were followed for three years and one for 13 years. Their disease courses during the period of observation are discussed.

Adult↗
PubMed2005

Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.

PURPOSE: To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 5-generation family, and to examine the phenotype and degree of intrafamilial variability. DESIGN: Family genetic study. PARTICIPANTS: Nine affected individuals from a nonconsanguineous British family. METHODS: Ophthalmologic examination, color vision testing, fundus photography, autofluorescence imaging, and electrophysiological assessment were performed. The clinical notes of 2 additional deceased affected family members were also reviewed. Blood samples were taken for DNA extraction, with linkage analysis being performed, and subsequent mutation screening of the peripherin/RDS gene. RESULTS: Linkage analysis established a disease interval on chromosome 6p, which harbored the retinal candidate gene, peripherin/RDS. The 3 coding exons of the peripherin/RDS gene were subsequently screened for mutations in affected and unaffected family members. A nonconservative missense substitution, Arg172Trp (R172W), segregated uniquely in all affected subjects. The majority of subjects carrying the R172W peripherin/RDS mutation complained of reduced central vision starting in the second or third decade, with subsequent gradual deterioration of visual acuity and color vision. Three affected individuals complained of nyctalopia. A range of macular appearances were seen, varying from a typical granular appearance to extensive macular atrophy. Autofluorescence imaging in the majority of individuals identified a highly characteristic speckled macular appearance. All affected subjects had abnormal pattern electroretinograms (ERGs) consistent with macular dysfunction and 4 subjects showed additional full-field ERG abnormalities, providing evidence of generalized retinal dysfunction. There was marked variation in the clinical phenotype in those individuals who carried the R172W peripherin/RDS mutation, ranging from severe cone-rod dystrophy to asymptomatic individuals with normal retinal function. CONCLUSIONS: The Arg172Trp (R172W) peripherin/RDS mutation has been previously reported to cause a fully penetrant progressive macular dystrophy with high intrafamilial and interfamilial consistency of phenotype. This is the first report describing marked intrafamilial variation associated with this mutation, including nonpenetrance. These findings are clinically important in relation to advice on prognosis and accurate genetic counseling.

Adolescent↗
PubMed1991

Colour perception in pathologists: the Farnsworth-Munsell 100-hue test.

The value of many histological stains depends on the ability of the observer to differentiate colour. This ability was assessed in 30 histopathologists and cytopathologists of varying experience using the Farnsworth-Munsell 100-hue test. As a group, the pathologists performed better than a reference population. Twenty eight subjects showed a wide ranging ability to differentiate colour: none was colour blind. Three of the 30 pathologists, however, fell below the twentieth centile for normal subjects and only one was aware of this deficiency! They may unknowingly misinterpret subtle stains. Two of these three had specific and major defects which could affect their ability to interpret a wide range of less subtle stains. Those with the poorest colour discrimination were not those with the least experience of microscopy. Pathologists should be apprised of the importance of their ability to discriminate colour, and that formal colour vision testing of prospective histopathologists may be appropriate.

Adult↗
PubMed1994

Motor vehicle collision injuries and sensory impairments of older drivers.

To determine whether ocular disease, impaired vision, or diminished hearing might increase the risk of motor vehicle collision injuries in older drivers, we conducted a population-based case-control study at a large Health Maintenance Organization (HMO). All study subjects were HMO members who were licensed drivers age 65 or over. Cases were drivers treated for injuries sustained in a police-reported collision that occurred in 1987 or 1988. Controls were drivers who experienced no such injury during the study years and were matched to cases by age, sex, and county of residence. We found no clear evidence that ocular diseases or impaired visual acuity, as customarily recorded in the medical record, increased the risk of an injury collision. Although there was no significant association between impaired hearing and injury collision, we found that subjects who used hearing aids while driving had about twice the risk of others (adjusted RR 2.1; 95% CI 1.2-3.8). We conclude that mild reductions in static visual acuity have little effect on the risk of injury collisions for older drivers. Moreover, the types of vision tests needed to identify elderly drivers at increased risk are not those that are generally administered during routine optometry examinations or at the time of licence renewal. Further research is needed to verify a possible increase in risk among elderly drivers using hearing aids.

Accidents, Traffic↗
PubMedDate not supplied

[Clinical manifestation and molecular identification of patients with Leber's hereditary optic neuropathy in a national reference center for neuro-ophthalmology in Cuba].

INTRODUCTION: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder, confirmed at a molecular level 10 years ago. This had permitted better understanding of the condition. Since 1998, the Instituto de Neurología y Neurocirugía has used these techniques for the study of mutations which are considered to be the origin of the disorder. PATIENTS AND METHODS: We describe the characteristics of 14 cases from 10 families with LHON and the molecular confirmation found between 1994 and 1998 in the Instituto de Neurología Neurocirugía de Cuba. We also review the few cases seen in the previous 18 years. These were from only two families. They were diagnosed on clinical grounds and in view of maternal inheritance. RESULTS AND CONCLUSIONS: In 80% of the families in which the presence of primary mutations was investigated there was A117789, and in 20% A3460G. The average age of appearance was 28 years. The ages of onset were within the limits of 11 years and 48 years. There were 43% women. Two cases were considered to be sporadic. The clinical features corresponded to those described in such cases, with severe visual defects, central scotomas, very reduced colour vision and severely altered visual evoked potentials, with normal diffuse light and pattern electroretinograms. An improvement in visual acuity of 0.2 was seen in two cases. Microangiopathy, described as characteristic of the early stages of this disorder was detected in five cases, in at least one eye. The others had different degrees of optic atrophy. Two generations of one complete family, all with mutation 3460, were studied. In several families with this mutation alterations were found in the colour vision test of Farnsworth Munsell Hue 100 and also microangiospathy of the retina.

Adolescent↗