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At least 883 records · Page 49Linked to original sources
PubMed2004

Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.

PURPOSE: To quantify retinal function longitudinally and cross-sectionally in patients with autosomal-recessive early-onset severe retinal dystrophy (EOSRD) associated with RPE65 mutations. SUBJECTS AND METHODS: The ocular phenotype was characterized in four children from three families up to the second decade of life, and in three siblings from one family aged 43-54 years carrying compound heterozygous or homozygous mutations in RPE65. Standard clinical examination included colour vision testing, fundus photography and Goldmann visual fields (GVF). Full-field ERGs (in all) and multifocal ERGs (in two patients) were also recorded. Visual performance and fundus appearance were compared to literature data. RESULTS: In childhood, visual acuity (VA) ranged from 0.1 to 0.3, and GVF for target V4 was well preserved. VA and GVF were measurable in only one of the three adult siblings. Nystagmus was present in two of four children and two of three adults. Photophobia was absent in childhood and developed in adulthood. Funduscopic changes were discrete during the first decade of life in three of four children; one patient had clear macular changes already at age 5 years. All three adult siblings had distinct retinal changes including the macula. Bone spicules were not a feature. Residual colour vision was present in all patients with measurable VA. Rod ERGs were absent at any age; cone ERGs were detectable in early childhood. To date, VA data have been reported in 51 patients, visual fields in 29 patients, and a detailed fundus description in 34 patients. For all three parameters, data were comparable to the results in our patient cohort. CONCLUSION: In childhood, patients with RPE65 mutations have better visual functions than typically seen in Leber congenital amaurosis. The phenotype shows a common progressive pattern with intrafamilial and interfamilial variation. The data suggest a preserved retinal morphology at young ages, arguing for vision-restoring gene therapy trials in childhood.

Adolescent↗
PubMed1999

Use of collaborative audit to assist local implementation of the SIGN guideline for prevention of visual impairment in diabetes.

OBJECTIVES: To use audit to inform the local implementation of a national clinical guideline for the prevention of visual impairment in diabetes. DESIGN: Computer and patient record search in hospital and general practice to determine levels of morbidity and follow-up. Questionnaire to each practice to determine models and techniques of eye screening. SETTING: Ayrshire and Arran Health Board area, Scotland. SUBJECTS: All known diabetic patients. MAIN MEASURES: Proportion of diabetic patients who have had diabetic eye review and monitoring of risk factors within one year. Proportion of diabetic patients who have risk factors recorded within target level. Proportion of eye screening centres with recommended mechanisms in place. RESULTS: Both district general hospitals, and 59 of the 63 general practices, in the area took part in the audit. A total of 6,217 diabetic patients were included; the prevalence of diabetes in this population was 1.65%. Twenty-seven per cent were insulin treated. Seventy-two per cent of diabetics who were not registered blind had a record of having had fundoscopy performed through dilated pupils within one year. Sixty-nine per cent of those who were not registered blind had had corrected visual acuity measured within one year. Eighty-five per cent of diabetics had HbA1C recorded within one year and of these 65% had a level of 8% or less. Eighty-eight per cent had a blood pressure recording within twelve months and 52% of recorded pressures were 140/90 mmHg or less. Smoking status was recorded for 89% of patients and 75% of patients with a record were non-smokers. Representatives of 57 practices returned a completed questionnaire. All these practices had a Snellen chart, but only 83% had near vision testing equipment and only 54% had a pinhole occluder. CONCLUSIONS: An area wide collaborative audit provided local data to inform the process of guideline implementation and baseline data from which to evaluate this process. Wide stakeholder involvement increased interest, motivation and support for the process. The audit highlighted specific areas for change and provided the local stimulus for change.

Cooperative Behavior↗
PubMed1979

Vision of submariners.

A variety of vision tests have been administered to submariners over the years. The results show that the average submariner, though maintaining a normal, healthy visual system, has distant acuity somewhat below normal and manifests more myopia, esophoria, and less accommodative power than men of comparable age, as documented in the literature. The reasons for these changes are unknown but probably involve confinement; whether confinement peculiar to the submarine of the "confinement" of urban living is the more important for these changes is discussed.

Accommodation, Ocular↗
PubMed2004

Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).

PURPOSE: To describe the clinical characteristics of a Japanese male patient with enhanced S-cone syndrome (ESCS) and investigate the existence of mutations in the NR2E3 gene, which encodes a photoreceptor cell-specific nuclear receptor. METHODS: Fundus examinations, fluorescein angiography, colour vision tests, spectral sensitivity, and full-field and spectral electroretinography were performed. Mutation screening of the NR2E3 gene was performed with polymerase chain reaction (PCR) amplification and direct sequencing. RESULTS: We identified a novel homozygous mutation (c.1048C > T), that converts glutamine (CAA) to a termination codon (TAA) at amino acid position 350. The subject's unaffected parents were heterozygous for the mutation, consistent with autosomal recessive transmission. The electroretinographic findings revealed that the patient had neither rod nor 30-Hz flicker responses but did have cone responses with large a-wave and low b-wave amplitudes, similar to the rod-plus-cone responses, and also substantial short wavelength-sensitive (S) cone and extremely diminished long/middle wavelength-sensitive (L/M) cone responses. In the right eye, spectral sensitivity in the fovea revealed both functional S-cone and remarkably reduced L- and M-cone sensitivities, which was compatible with the decreased visual acuity (VA) and red/green colour vision defects noted in this eye. In contrast, the patient had good VA and normal red/green colour vision in the left eye. CONCLUSION: The nonsense mutation results in a truncated NR2E3 protein lacking 61 amino acids within the ligand-binding domain (LBD) that consists of 190 amino acids of the C-terminus end. Therefore, null function of the LBD is likely to cause ESCS in the patient. The clinical findings for this patient suggest that his left eye, with its functional L/M- and S-cones, was at an earlier stage of the syndrome than his right eye.

Adolescent↗
PubMed2005

A prospective study of offspring of women with psychosis: visual dysfunction in early childhood predicts schizophrenia-spectrum disorders in adulthood.

OBJECTIVE: Children with visual dysfunction have perinatal, neurological, visual-perceptual and cognitive abnormalities, similar to schizophrenia patients. We prospectively investigated whether visual dysfunction in childhood selectively predicts adult schizophrenia-spectrum disorders, and is related to childhood neurological abnormality. METHOD: Offspring of mothers with and without a history of psychosis were prospectively assessed with vision tests at 4 years, neurological examinations at 6 years, and interviews for psychiatric disorders at follow-up (93% effective, n=166) at 22 years. RESULTS: In the total sample and high-risk (HR) offspring, visual dysfunction at 4 years, and its severity, were associated only with schizophrenia-spectrum disorders in adulthood, and with neurological abnormality at 6 years. CONCLUSION: Visual dysfunction at 4 years of age selectively predicts schizophrenia-spectrum disorders in adulthood among HR offspring, this likely reflecting disturbed neurological development.

Adult↗
PubMed1991

[The effect of training with computer equipment on the visual analyzer of 1st-grade pupils].

Examination are carried out on 64 school children Ist class from school "104", town of Sofia where computer training on mathematics and mother tongue is introduced in the frames of pedagogic experiment. The studies are performed parallelly at traditional and computer lessons, realized in two variants (with one and two school hours daily). In order to establish the functional status of the visual analyzer during computer training the following methods are used: studying the distance of the nearest point for clear vision (punctum proximum), stability of clear vision, threshold of the electric eye sensitivity, critical frequency of fusing of the light flickerings. A full preliminary ophthalmological examination is made by "Vision test", as well as chronometric control of each student to establish the real time of work with computers. Taken into consideration are also the data for illumination of the working places in the computer studies and class rooms where the traditional school hours are held. The analysis of the data received shows that the computer training (1 and 2 computer lessons daily) with schoolchildren, Ist class, has no unfavourable effect on the functional status of the visual analyzer in the limits of study hours up to 25 minutes.

Accommodation, Ocular↗
PubMed1994

[J.J. a daltonic painter].

Mr. J.J., painter, has been a professional artist for thirty years. On clinical examination of the color vision by pseudo-isochromatic plates, City University Colour Vision Test, standard and desaturated Panel-D 15, Farnsworth 100-hue test and Nagel's anomaloscop evidenced a typical hereditary deuteranopia. Neverless, the recognition and the denomination of coloured samples, presented singly or in simultaneous chromatic contrast, evidenced only a few errors. In an interview, the subject explained his difficulties with colours, mainly with green, and the procedures used to avoid mistakes in painting: knowledge of the names of colors written on tubes; precise order of arranging the tubes; use of a palette restricted to some basic hues, avoiding green. The subject artistic technique is based on drawing, on better perceived colours (i.e. the blues) and on value contrasts. He also enumerated his difficulties with colours in casual situations: clothes, traffic, food. Some reproductions of the works of the painter illustrate this study.

Color Vision Defects↗
PubMed2002

Preschool vision screening in a Swedish city region: results after alteration of criteria for referral to eye clinics.

PURPOSE: To investigate the results of preschool vision screening and to evaluate new referral criteria in a Swedish city region. Prior to 1992, all children with visual acuity (VA) of less than 0.8 at the age of 4 years were referred to an eye clinic. Since 1992, those with slightly reduced VA (0.65 in each eye or 0.65 in one eye and 0.8 in the other) have been retested at 5.5 years of age and referred if their VA is less than 0.8. METHODS: In a prospective study, the results of vision testing were collected for all children (n = 483) born in 1989-92 inclusive and registered at one child health centre at 4 years of age. The study also involved 123 other children scheduled for retesting at the age of 5.5 years. The results of the examinations and treatments at the eye clinic are evaluated. RESULTS: Few of the children with slightly reduced VA who were retested at the age of 5.5 years had visual defects that required treatment. In those who were treated, the results of treatment were good. CONCLUSIONS: The new screening criteria appear to be appropriate and are recommended.

Amblyopia↗
PubMed1992

The effect of sleep deprivation and sustained military operations on near visual performance.

A group of military servicemen were deprived of sleep for 65 h while they carried out a simulated military mission with a high visual workload. Their performance in a series of near vision tests was monitored. In general, the visual system was found to be resilient to the stress of sleep loss, the subjects experiencing mild symptoms of asthenopia (eyestrain). However, after 48 h without sleep there was a reduction in amplitude of convergent fusional reserves and a decrease in contrast sensitivity to a spatial frequency of 6 cycles/degree. A disruption in diurnal rhythms for these parameters was suggested. The results are considered in terms of the maintenance of visual efficiency and comfort with loss of sleep, and have implications for both the military and civilians involved in shift work and long work schedules.

Accommodation, Ocular↗
PubMed2003

Orbital decompression: a comparison between trans-fornix/transcaruncular inferomedial and coronal inferomedial plus lateral approaches.

PURPOSE: To compare two techniques of orbital decompression for Graves orbitopathy, that is, the inferomedial transfornix/transcaruncular approach and the inferomedial plus lateral coronal approach. METHODS: Comparative interventional case series. A retrospective review of 53 patients (94 orbits) with Graves orbitopathy operated on over a 9-year period was performed. Forty-nine orbits were decompressed by the transfornix-transcaruncular approach and 45 by the coronal approach. Data obtained for all patients included computed tomography scans of the orbits, Snellen visual acuity measurements, visual fields, Hertel exophthalmometry, color vision testing, subjective testing for diplopia in the cardinal positions of gaze, and direct ophthalmoscopic or biomicroscopic examination of the optic disc. RESULTS: The mean proptosis reduction was 4.37 mm with the transfornix/transcaruncular approach and 5.76 mm with the 3-wall coronal approach. The rate of optic neuropathy reversal was similar with both techniques (90%). Induction of new diplopia occurred in 13.6% patients operated by the transfornix/transcaruncular approach and in 16.6% patients who underwent decompression by the coronal approach. CONCLUSIONS: The two techniques have similar effects on visual function and ocular motility. For the vast majority of patients with Graves who need orbital decompression, the coronal approach is unnecessary; the transconjunctival approach allows the same exposure to the medial, inferior, and lateral walls.

Adult↗
PubMed2004

Clinical findings in a carrier of a new mutation in the choroideremia gene.

OBJECTIVE: To describe the clinical and molecular findings of a female carrier of a new mutation in the choroideremia (CHM) gene. DESIGN: Single interventional case report. METHODS: A 27-year-old woman was seen with mild difficulties with dark adaptation and a history of a retinal degeneration in her father and choroideremia in 3 male paternal first cousins. Visual acuity measurements, peripheral and color vision tests, electroretinography (ERG), Goldmann visual fields, fluorescein angiogram, computed tomography scan, and DNA analysis were performed. MAIN OUTCOME MEASURES: (1) Visual fields, (2) fluorescein angiography, and (3) DNA analysis. RESULTS: Visual acuity decreased from 20/30 to 10/200 in the right eye abruptly over 2 months, then remained stable over 2 years of follow-up and remained 20/25 in the left eye. Goldmann visual fields showed development of a central scotoma in the right eye concurrent with the rapid decline. A small amount of subretinal hemorrhage was visible on dilated fundus examination at that time, but definite leakage was not evident on fluorescein angiography; afterwards, a choroidal neovascular membrane (CNV) was suspected. The ERG was normal. DNA analysis revealed that the patient was heterozygous for a previously undescribed substitution mutation at the 3'-splice site of intron 6 of the CHM gene (850-1 G to C), confirmed by mRNA analysis with reverse transcriptase polymerase chain reaction. CONCLUSIONS: Severe visual acuity loss rarely occurs in female carriers of choroideremia mutations. The diagnosis should be considered in patients with a suitable family history and fundus findings. Physicians should consider the possibility of CNV development in such patients, which may be a response to abnormal retinal pigment epithelium. Recognition of this new mutation may help identify patients who could benefit from current and future treatments to protect against vision loss.

Adaptor Proteins, Signal Transducing↗
PubMed2003

Long term outcome of neonatal meningitis.

OBJECTIVES: To quantify long term impairment after neonatal meningitis. DESIGN: Longitudinal case-control study over 9-10 years. SUBJECTS AND METHODS: A total of 111 children who had suffered neonatal meningitis were seen and compared with 113 matched controls from their birth hospital and 49 controls from general practices. Assessments included the WISC III(UK), movement assessment battery for children (mABC), audiometry, vision testing, and social and medical data. Statistical analysis was by multiple regression, analysis of variance, and chi(2) tests. RESULTS: Some 10.8% of cases had a severe and 9% a moderate overall outcome compared with 0% and 1.8% for the hospital controls. The mean intelligence quotient (IQ) of the cases (88.8) was significantly less than that of the hospital controls (99.4) or the GP controls (99.6). The mABC score was significantly worse for the cases (7.08) than the hospital (5) or GP (4) controls. Some 3.6% of cases had sensorineural hearing loss, 2.7% had persisting hydrocephalus; no controls did. Some 5.4% of cases and 1.7% of hospital controls had treatment for seizures. CONCLUSIONS: Severe neurodisability and milder motor and psychometric impairment result from neonatal meningitis. Both clinical follow up and comprehensive developmental assessment are needed after this disease.

Analysis of Variance↗
PubMed1997

[Idiopathic hypertrophic cranial pachymeningitis associated with Horner's syndrome. A case report].

A 64-year-old man was admitted to our hospital for recurrence of visual disturbance and double vision experienced 1 year previously. He was alert and oriented. Bilateral light perception in a vision test, the third to the sixth cranial nerve palsies on the left side, and neck stiffness were observed. The patient exhibited left blepharoptosis, anisocoria and a left miotic pupil. After a pupillary drug test, a diagnosis of Horner's syndrome was made. Laboratory tests revealed hypoalbuminemia, elevated erythrocyte sedimentation rate, positive rheumatoid factor, and elevated p-ANCA. Examination of the cerebrospinal fluid showed increased initial pressure and pleocytosis, but its bacterial and fungal cultures were negative. Cranial magnetic resonance imaging after intravenous administration of gadolinium revealed mild brain edema and marked hypertrophy of the left tentorium cerebelli, bilateral frontal dura and falx. Marked hypertrophy of the dura accompanied by cellular infiltration was observed in biopsied dura specimens. The patient was given a diagnosis as idiopathic hypertrophic cranial pachymeningitis (IHCP). His ocular symptoms gradually improved with methylprednisolone pulse therapy and oral prednisolone. This is the first reported case of IHCP associated with Horner's syndrome. Previous anatomical findings of the cavernous sinus suggest that Horner syndrome in this patient might be due to a mechanism other than constrictive compression of the cranial nerves by the hypertrophic dura mater.

Anisocoria↗
PubMed2003

Swedish school nurses' view of school health care utilization, causes and management of recurrent headaches among school children.

The present survey was addressed to a representative, nationwide sample of Swedish school nurses and 174 (69%) responded. They were asked about their views on: (i) the most usual problems for students that prompt attendance at school nurses' offices; (ii) the causes and management of school children's headaches and (iii) the school nurses' own education with respect to headaches. Headaches were reported to be one of the most common problems among adolescents visiting the school nurses' offices and tension-type headaches were regarded as a more serious school health problem, compared with migraine. Various stressors such as family and peer problems were regarded as important causes of recurrent headaches. In addition, the school nurses mentioned too little physical activity, sleep problems and poor eating habits as related factors, in particular among students with tension-type headaches. Common management approaches used by the school nurses were to provide information about headaches or supportive discussion, recommend follow-up visits, perform vision tests and refer students to a school physician. About one-fifth to one-third of the school nurses often gave analgesic medication to students because of headaches, most commonly used were paracetamol followed by various NSAIDs. Most of the school nurses regarded relaxation training as an "effective or very effective" treatment for both migraine and tension-type headaches, whereas palliative and prophylactic drug treatments were seen as more effective for migraine. It is suggested that school nurses, who often provide the first line of treatment for school children and adolescents with recurrent headaches, also should administer a cost-effective treatment such as relaxation training in school settings, where many of the headache episodes occur. However, school nurses also need to be properly trained to ensure quality in delivering such treatment approaches.

Analgesics↗
PubMedDate not supplied

Measuring the effectiveness of bioptic telescopes for persons with central vision loss.

PURPOSE: 1) To evaluate a vision rehabilitation program aimed at training persons with central vision loss to use a bioptic telescope for improving life skills, including driving and 2) to compare the outcomes of subjects who are given bioptic telescopes and training, with subjects who are prescribed telescopic lenses without training. METHODS: Twenty-five subjects ranging in age from 16 to 78 years were included in the study. Each subject was randomized to one of three groups: Group 1 received bioptic telescopes and training during the first approximately 3-month-long period of the approximately 6-month-long study; Group 2 received lenses and training during the second approximately 3-month-long period of the study; and Group 3 received the lenses for approximately 3 months without any training. An assessment battery consisting of clinical vision tests, functional tasks evaluated by an orientation and mobility specialist, driving skills evaluated by a kinesiotherapist specializing in driver's education, and psychophysical measures was administered to Groups 1 and 2 at baseline, and at approximately 3 and 6 months, and to Group 3 at baseline and at approximately 3 months. The tasks were categorized into 6 major functional categories: Recognition, Mobility, Peripheral Identification, Scanning, Tracking, and Visual Memory. Training consisted of 5 weeks of laboratory-based training focusing on skills within these 6 categories, and 8 weeks of on-road driving training. RESULTS: There was significant improvement in all task categories with use of the telescopes. There was improvement in all task groups with training, though a significant difference between the trained and untrained groups existed only in the Recognition, Peripheral Identification, and Scanning Categories, but not in Mobility, Tracking, or Visual Memory. When the tasks involving driving-related skills were analyzed separately, training also had a significant effect. CONCLUSION: There was significant improvement in visual skills with the use of a bioptic telescope. This improvement was greater with training in the use of the lenses in a number of visual skills categories including driving-related skills.

Adolescent↗
PubMed2001

Estuary-associated syndrome in North Carolina: an occupational prevalence study.

Atlantic coast estuaries recently have experienced fish kills and fish with lesions attributed to Pfiesteria piscicida and related dinoflagellates. Human health effects have been reported from laboratory exposure and from a 1997 Maryland fish kill. North Carolina has recorded Pfiesteria-related fish kill events over the past decade, but human health effects from environmental exposure have not been systematically investigated or documented here. At the request of the state health agency, comprehensive examinations were conducted in a cross-sectional prevalence study of watermen working where Pfiesteria exposure may occur: waters where diseased or stressed fish were reported from June to September 1997, and where Pfiesteria had been identified in the past. Controls worked on unaffected waterways. The study was conducted 3 months after the last documented Pfiesteria-related fish kill. The goal was to document any persistent health effects from recent or remote contact with fish kills, fish with lesions, or affected waterways, using the 1997 U.S. Centers for Disease Control and Prevention case description for estuary-associated syndrome (EAS). Examinations included comprehensive medical, occupational, and environmental history, general medical, dermatologic, and neurologic examinations, vision testing, and neuropsychologic evaluations. Seventeen of 22 watermen working in affected waters and 11 of 21 in unaffected waters reported exposure to a fish kill or to fish with lesions. We found no pattern of abnormalities on medical, neurologic, neuropsychologic, or NES-2 evaluation. By history, one subject in each group met the EAS criteria, neither of whom had significant neuropsychological impairment when examined. Watermen from affected waterways had a significant reduction in visual contrast sensitivity (VCS) at the midspatial frequencies, but we did not identify a specific factor or exposure associated with this reduction. The cohorts did not differ in reported occupational exposure to solvents (qualitative) or to other neurotoxicants; however, exposure history was not sufficiently detailed to measure or control for solvent exposure. This small prevalence study in watermen, conducted 3 months after the last documented fish kill related to Pfiesteria, did not identify an increased risk of estuary-associated syndrome in those working on affected waterways. A significant difference between the estuary and ocean watermen was found on VCS, which could not be attributed to any specific factor or exposure. VCS may be affected by chemicals, drugs, alcohol, and several developmental and degenerative conditions; it has not been validated as being affected by known exposure to dinoflagellate secretions. VCS should be considered for inclusion in further studies, together with documentation or quantification of its potential confounders, to assess whether it has utility in relationship to dinoflagellate exposure.

Adult↗
PubMed1983

Eye movements in Friedreich's ataxia.

Twenty-four patients with well-documented Friedreich's ataxia underwent quantitative oculomotor testing. A consistent pattern of eye movement abnormalities was observed. This pattern included fixation instability, inaccurate saccades with normal peak velocity, impaired smooth pursuit and optokinetic slow phases, decreased vestibulo-ocular reflex gain, and impaired visual-vestibular interaction. This pattern corresponds to the known pathologic changes of Friedreich's ataxia and can be useful in the differential diagnosis of cerebellar atrophy.

Adolescent↗