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A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia.

We have previously reported evidence of linkage and association between markers on 1q42 and schizophrenia in a study sample of 498 multiply affected Finnish nuclear families, leading to the recent identification of four significantly associated haplotypes that specifically implicate the Translin-Associated Factor X (TRAX) and Disrupted in Schizophrenia 1 and 2 (DISC1 and DISC2) genes in the genetic etiology of schizophrenia. Previously, the DISC genes were found to be disrupted by a balanced translocation (1;11)(q42.1;q14.3) that cosegregated with schizophrenia and related disorders in a large Scottish pedigree. Interestingly, we also reported earlier suggestive linkage between endophenotypic quantitative traits of visual and verbal memory and microsatellite markers in close proximity to TRAX/DISC, on 1q41. Here, we tested if the identified allelic haplotypes of TRAX/DISC would be associated with visual and/or verbal memory function impairments that are known to aggregate with schizophrenia in families. One haplotype of DISC1, HEP3, displayed association with poorer performance on tests assessing short-term visual memory and attention. Analysis of affected and unaffected offspring separately revealed that both samples contribute to the observed association to visual working memory. These results provide genetic support to the view that the DISC1 gene contributes to sensitivity to schizophrenia and associated disturbances and affects short-term visual memory functions. This finding should stimulate studies aiming at the molecular characterization of how the specific alleles of DISC1 affect the visual memory functions and eventually participates in the development of schizophrenia.

Aged↗

Surgical management of secondary glaucoma after pars plana vitrectomy and silicone oil injection for complex retinal detachment.

OBJECTIVE: To evaluate the outcomes of surgical intervention for secondary glaucoma after pars plana vitrectomy and silicone oil injection for repair of complex retinal detachment. DESIGN: Retrospective noncomparative interventional case series. PARTICIPANTS: Forty-three eyes of 43 patients who underwent incisional surgery for secondary glaucoma after pars plana vitrectomy and silicone oil injection for repair of complex retinal detachment over a 9-year period. MAIN OUTCOME MEASURES: Intraocular pressure (IOP), intraoperative and postoperative complications, visual acuity, and the need for further surgical intervention for glaucoma. Success was defined as IOP < or =21 mmHg and > or =5 mmHg with or without medication but without surgical reoperation for glaucoma. RESULTS: Findings associated with elevated IOP included emulsified oil in the anterior chamber (n = 14), pupillary block from silicone oil (n = 13), open-angle glaucoma without silicone oil in the anterior chamber (n = 9), and angle-closure glaucoma without pupillary block (n = 7). The mean (+/- standard deviation) IOP was 41.4 +/- 15.1 mmHg before surgery for glaucoma and 17.2 +/- 10.2 mmHg after an average follow-up of 19.6 months (P < 0.001). Cumulative success was 69%, 60%, 56%, and 48% at 6, 12, 24, and 36-months respectively. In patients who underwent silicone oil removal alone for surgical management of glaucoma (n = 32), 11 of 12 IOP failures (92%) were due to uncontrolled IOP, whereas most IOP failures in the group who underwent silicone oil removal plus glaucoma surgery (n = 8) failed because of hypotony (3 of 4, 75%, P = 0.027). Of three patients who underwent glaucoma surgery alone to control IOP, one failed because of hypotony. There was no significant change in visual function at last follow-up (logarithm of the minimum angle of resolution [logMAR] 2.01) compared with preoperative visual function (logMAR 2.07, P = 0.74). CONCLUSION: Surgical management of secondary glaucoma after silicone oil injection for complex retinal detachment may achieve good IOP control and stabilization of visual function in most patients. Patients who undergo silicone oil removal alone to control IOP are more likely to have persistent elevation of IOP and possibly undergo reoperation for glaucoma, whereas patients who undergo concurrent silicone oil removal and glaucoma surgery are more likely to have hypotony.

Female↗

Surgically treated tuberculum sellae and diaphragm sellae meningiomas: the importance of short-term visual outcome.

OBJECTIVE: The visual outcome in patients with tuberculum and diaphragm sellae meningiomas treated with microsurgery was evaluated. Prognostic and diagnostic values of short- and long-term postoperative visual outcome and etiology for postoperative visual deterioration are discussed with special attention. METHODS: Clinical data for 30 surgically treated patients with tuberculum and diaphragm sellae meningiomas were reviewed retrospectively. The mean duration of the follow-up period was 75.9 months (range, 12-151 mo). Mean tumor diameter and volume was 25.9 mm (range, 16.3-63.3 mm) and 12.4 cm (range, 2.3-125.6 cm). A visual impairment score was used to assess the short-term (< or =2 wk after surgery) and the long-term (>6 mo after surgery) postoperative visual outcome. Various predictive factors for visual outcome were tested statistically. RESULTS: Complete resection was achieved in 23 out of 30 (76.7%) patients. Average preoperative, short- and long-term visual impairment scores were 48.2, 43.4, and 40.9, respectively. Favorable visual outcome was achieved in 80% of patients in the short term and 70% in the long term. Short-term postoperative aggravation of visual function was an ominous sign of further aggravation or at least of little hope for recovery, whereas there was a tendency to improve in the long term if short-term postoperative visual function showed favorable outcome. Recurrence or regrowth of tumor fully was responsible for late deterioration of visual function. No significant prognostic factor for visual outcome could be found. CONCLUSION: Short-term postoperative visual outcome was a strong indicator of permanent visual outcome after surgery for tuberculum sellae and diaphragm sellae meningiomas.

Adult↗

[Quality of life assessment of cataract surgery in elderly population of Doumen County, Guangzhou Province].

OBJECTIVE: To evaluate the outcome of cataract surgery in elderly population in Doumen County, Guangdong Province by assessment of subjective visual function and quality of life. METHODS: All the cataract postoperative subjects were identified in the population-level. Visual Function and Quality of Life (VF/QOL) questionnaire developed by National Eye Institute, USA in developing countries was used as the instrument. This Questionnaire was administered by four trained-interviewers in all subjects with visual acuity less than 0.1 in either eye (treated as visual impairment cases), One in every 20 persons with visual acuity better than 0.3 (treated as normal control cases) in both eyes (un-operated group) and all cataract postoperative cases (operated group). RESULTS: In 5 342 cross-sectional examined persons, individuals who could be successfully interviewed included 99 (90.8%) cataract postoperative cases, 535 (85.5%) visual impairment cases and 119 normal control ones. On a 0 - 100 scale, medium total scores of VF and QOL diminished from 92 to 2 and from 100 to 19 respectively along with visual status from normal to severe blindness in the un-operated group. Similar findings on visual status and VF/QOL scores were found in the operated group. The overall scores of VF and QOL were 40 and 56 for operated one and 56 and 72 for un-operated one. After adjusted the confounding effect of visual status, age, sex and education by multivariate regression model, the difference of QOL scores between un-operated and operated group was significant (P = 0.015), while no significant difference (P = 0.199) was found in VF scores. CONCLUSIONS: The scores of VF and QOL are significantly correlated with the visual status. Subjective visual function and quality of life could not be significantly improved after cataract surgery in this target population. Concerns should be paid in postoperative follow-up, aphakic correction and social-psychological rehabilitation.

Aged↗

Treatment of acquired nystagmus with botulinum neurotoxin A.

OBJECTIVE: Acquired nystagmus may cause oscillopsia and in some cases decreased visual acuity. Such symptoms may be debilitating. We evaluated the efficacy of retrobulbar botulinum neurotoxin A in the visual rehabilitation of patients with acquired symptomatic nystagmus. PATIENTS: Adults with acquired nystagmus from multiple sclerosis or brain-stem hemorrhage were recruited for this treatment study. Eligible patients were unable to perform visual tasks that they had performed prior to the onset of the nystagmus. DESIGN AND INTERVENTION: A prospective study evaluated the results of the retrobulbar injection of 25 to 30 U of botulinum neurotoxin A. Patients underwent testing of visual function, including eye movement recordings before and after initial injections. Patients were followed up for changes in their visual function for at least 6 months following the last injection. RESULTS: Six patients (nine eyes) with acquired nystagmus were treated with a series of 17 injections of retrobulbar botulinum neurotoxin A. Each patient had subjective and objective improvement in distance visual acuity following the injection. A reduction in the amplitude of the nystagmus was seen following each of the injections, but the frequency of the nystagmus was generally unchanged. Visual improvement usually lasted no more than 8 weeks. However, improvement persisted for 6 months after injection in two patients with oculopalatal myoclonus. CONCLUSION: Botulinum neurotoxin A transiently improves the visual function of patients with acquired nystagmus. For patients with oculopalatal myoclonus the improvement seems to last longer, about 6 months in two patients.

Adult↗

Visual evoked potentials and visual prognosis following perinatal asphyxia.

Twenty-five children born at term with perinatal asphyxia were studied at age 2.5 to 4.5 years to evaluate visual function and to determine the prognostic value of postnatal assessments of visual outcome. Postnatal assessments included several visual evoked potentials and electroretinograms in the first week of life. Follow-up assessments included flash and pattern visual evoked potentials, visual evoked potential threshold measurements, and clinical eye examinations. Nineteen children had normal visual function, three were visually impaired, and three remained blind. A strong association was found between normal, abnormal, or absent visual evoked potentials in the early postnatal period and long-term visual outcome (P less than .0001). Other perinatal indicators of asphyxia, including neurologic status, Apgar scores, and arterial pH values, were poor predictors of visual outcome. The risk of visual impairment was limited to those survivors with neurodevelopmental deficits.

Asphyxia Neonatorum↗

Cross-cultural differences in the reporting of global functional capacity: an example in cataract patients.

OBJECTIVES: Patient-based health status measures have an important role to play in the assessment of health care outcomes. Among these measures, global assessments increasingly have been used, although the understanding of the performance of these indicators and the determinants of patients responses is underdeveloped. In this study, the performance of a single-item global indicator of visual function in cataract patients of four international settings was compared. METHODS: Visual acuity and ocular comorbidity was assessed by patients' ophthalmologist using Snellen-type charts in patients referred for a first cataract surgery in the United States, Manitoba (Canada), Denmark, and Barcelona (Spain). Patients also were interviewed by telephone and asked to report overall trouble with vision on a single-item indicator ("great deal," "moderate," "a little," "none") and to complete the Visual Functioning Index (VF-14), a scale of visual function ranging from 0 (worst function) to 100 (best level of function), along with other questions including the degree the patient was bothered by symptoms as measured by the Cataract Symptom Score (CSS). A total of 1,407 patients completed the clinical examination and the preoperative interview. RESULTS: Distribution of overall trouble with vision varied across the sites, with the proportion of patients reporting a great deal of trouble ranging from 21.7% to 37.9%. In all sites, patients reporting more trouble with vision tended to show a poorer age-adjusted and sex-adjusted visual acuity. The proportion of patients reporting great deal of trouble with vision was higher in the groups with worse visual acuity (P < 0.001). In multivariate analysis, after controlling for clinical and sociodemographic factors, the patients from Manitoba (OR = 0.32, 95% CI = 0.20, 0.51) and those from Barcelona (OR = 0.33, 95% CI = 0.20, 0.56) were less likely to report a great deal of trouble with their vision (P < 0.01) than the Danish and US patients. No such differences were found among the US patients from three sites. CONCLUSIONS: There is international variation in the self-reporting of global vision-related functional capacity that is not explained by clinical or sociodemographic factors, which may be because of cultural differences. International comparisons of patient-based health outcomes should not rely only on single-item indicators until there is convincing evidence of their cross-cultural equivalence.

Activities of Daily Living↗

Optical aberrations and visual disturbances associated with dry eye.

Optical aberrations and visual disturbances are associated with dry eye, although visual impairment is often not detected by conventional visual acuity testing. The newly developed functional visual acuity (FVA) device allows continuous dynamic evaluation of distance visual acuity and assessment of the effect of natural tear film status on dynamic visual function. Similarly, to detect corneal surface irregularities during sustained eye opening in dry eye subjects, a new tear stability analysis system (TSAS) has been developed. Both FVA and TSAS measurement systems seem to be effective tools in the assessment of dynamic visual acuity changes in dry eye and normal subjects. Both methods were also found to be helpful in the evaluation of the outcome of management of dry eye disease. FVA testing has been suggested to be an important indication of an individual's performance in relation to certain daily activities, such as driving, reading and working at a video display terminal. This review provides illustrations of results obtained from FVA and TSAS systems.

Astigmatism↗

Pituitary atrophy in Korean (epidemic) hemorrhagic fever: CT correlation with pituitary function and visual field.

Eleven patients with Korean (epidemic) hemorrhagic fever were each studied three times with high-resolution CT in order to demonstrate necrosis of the pituitary gland and to correlate the CT findings with the patients' pituitary function and visual fields. Seven of the 11 patients showed varying degrees of progressive decrease in the height of the pituitary gland: one severe, two moderate, and four mild. The visual fields of all the patients were checked at the time of the third (last) follow-up CT. Six of the 11 patients had bitemporal superior quadrantanopsia. In five patients, the decreased height (atrophic change) of the pituitary gland and the visual-field defect were coincidental. The visual-field defects in those patients were not improved on follow-up examination 5 weeks later. Two patients in whom a 1-year follow-up examination was performed showed no interval changes in the defects. Pituitary function tests were performed in nine of the 11 patients (six with atrophic pituitary glands and three without atrophic changes) at the time of the third CT. Five of the six patients with atrophy showed decreased pituitary reserve function for follicle-stimulating hormone, cortisol, or human growth hormone, while only one patient showed decreased reserve function for cortisol among the three patients without atrophic change. The pituitary atrophic changes observed on follow-up sellar CT are thought to be the result of the ischemic necrosis of the gland. The high probability (five of seven) of visual-field defects in those patients with atrophic glands suggests optochiasmatic and pituitary ischemia as the basic pathogenesis.

Adult↗

Light perception in diabetic vitreous haemorrhage and its prognostic value in pars plana vitrectomy.

Ninety-two years with a pre-operative visual function of light perception 6 m or less, were treated with vitrectomy because of diabetic vitreous haemorrhage. The post-operative visual function after 6 months was improved to 5/50-5/5 in 37 eyes and counting fingers from 1 to 5 m in 32 eyes. In 23 eyes the postoperative visual function was unchanged or decreased, and among these were all 7 eyes with pre-operative light perception at 1.5 m or less. No eye with pre-operative light perception at 1.5 or less benefitted from vitrectomy due to extensive retinal damage.

Adult↗

The choroidal circulation assessed by laser-targeted angiography.

The choroid plays an important role in supplying nutrients to and removing waste products from the outer region of the retina. Abnormal choroidal blood flow can disrupt normal retinal function and lead to alterations in visual function. Visualization of the choriocapillaris in vivo is a great challenge to understanding its normal physiology and involvement in the disease process. Laser-targeted angiography (LTA) is a relatively new method used to visualize and analyze the choroidal circulation. Carboxyfluorescein (CF), encapsulated in heat-sensitive liposomes, is released locally in the choroid through the application of a heat beam provided by an infrared laser. Video angiograms are generated with excitation illumination provided by an argon laser. Obtained images are highly selective to the choriocapillaris and are sharply contrasted against underlying and overlying structures. The images can be obtained repetitively, during which period the circulating liposome concentration is sufficient to generate adequate angiograms. These high-quality images have revealed three distinct phases (filling, plateau, and draining) of the choriocapillaris. In the plateau phase, a cluster of lobules fed by a common arteriole has been uniformly illuminated. This defined cluster area does not change in size while an infrared laser is continuously applied to the same spot, which demonstrates that each cluster is functionally independent and no physiological communication exists between them. Only in posterior regions do the angiograms demonstrate during the filling and draining phases that each lobule is filled from a central spot and drained along a peripheral ring, showing honeycomb flow patterns. The regional differences in choriocapillaris flow patterns revealed by LTA suggests that the choriocapillaris provides a more highly efficient system of outflow in posterior regions than in peripheral regions. LTA is useful in analyzing choroidal circulation in vivo and has the potential for clinical application in the future. Additionally, LTA has a unique capability to image choroidal neovascularization in animal models and it promises potential application in age-related macular degeneration (AMD).

Animals↗

Quality of life and relative importance: a comparison of time trade-off and conjoint analysis methods in patients with age-related macular degeneration.

AIM: To investigate the relative priorities in quality of life (QoL) in patients with age-related macular degeneration (AMD). METHODS: Measures of visual function, QoL and utility associated with visual loss were obtained from 122 patients with AMD classified according to macular morphology. The two methods of utility assessment were time trade-off (TTO) and conjoint analysis (CA), which have been recommended by the UK's National Institute of Clinical Excellence as techniques for the assessment of healthcare priorities. RESULTS: Results show that the two methods for assessing utility are poorly related: TTO relates moderately to visual function and disease severity but CA does not. CA identified two different subgroups of patients: one with outdoor mobility and the other with reading as their main priority. CONCLUSION: Further work is needed and caution required in interpreting data obtained using these methodologies for determining their relative importance in vision-related QoL studies.

Activities of Daily Living↗

Examining the impact on quality-of-life of those living with inherited optic neuropathies: an updated systematic review.

BACKGROUND: Inherited optic neuropathies (IONs) cause progressive visual loss and substantially affect quality of life. This updated systematic review aims to synthesize and evaluate evidence on the patient experience of living with IONs, identify currently used assessment tools, and highlight areas for improvement in research and clinical care. METHODS: We systematically searched MEDLINE, EMBASE, PsycINFO, CINAHL, and Scopus for studies on (i) inherited optic neuropathies; (ii) quality of life or health status; (iii) patient-reported outcome measures; and/or (iv) qualitative research. Inclusion was restricted to peer-reviewed studies. Screening, data extraction, and risk of bias assessment were conducted using Covidence. RESULTS: From 1775 unique records, 5 studies met the inclusion criteria. They evaluated quality-of-life outcomes in patients with Leber hereditary optic neuropathy or autosomal-dominant optic neuropathy across 6 countries. Patient-reported outcome measures used included National Eye Institute Visual Functioning Questionnaire-39, National Eye Institute Visual Functioning Questionnaire-25, Short-Form 12 Health Survey, Beck Depression Inventory, and Pittsburgh Sleep Quality Index. Only one study used qualitative interviews to explore the emotional, social, and financial impacts on patients and families. DISCUSSION: This updated systematic review builds upon previous work to further characterize the impact of ION on patients living with these conditions and the tools currently used to assess them. We highlight the need for a multifaceted approach to ION management, combining medical treatment with comprehensive psychosocial support to work toward more patient-centred care and improved quality of life for those living with these challenging conditions.

Humans↗

Acute optic neuritis with normal visual acuity. Comparison of symptoms and signs with psychophysiological, electrophysiological and magnetic resonance imaging data.

In a prospective study of hitherto 70 patients with acute optic neuritis (ON), 18 patients aged 15-49 years (12 women, 6 men) were diagnosed as having very subtle form of ON (bilateral in 4 patients), characterized by normal visual acuity. However, their symptoms were sudden functional visual disturbances, most frequently blurred vision accompanied by pain in or around the affected eye(s). In 5 patients, the ON was a manifestation of clinically definite multiple sclerosis (MS); the remaining 13 patients had monosymptomatic ON. The duration of visual symptoms ranged from 2 to 28 days (median 7 days) at the time of examination. Although 18 patients had a normal visual acuity, i.e. 6/6 c.c. (Snellen's notation) or better, extensive studies of the visual functions (using sensitive supplementary tests) revealed various abnormalities, primarily various visual field defects, abnormal contrast sensitivity, abnormal VEP and colour vision deficiencies (often of blue-yellow type). Magnetic resonance imaging (MRI) of the brain revealed demyelinating lesions in 10 of the 13 patients with monosymptomatic ON, and in all 5 patients with definite MS. The extended disease spectrum gives reason to hypothesixe that ON may occur more frequently than previously reported, and that the described subtle form of ON could be an unnotified precocious manifestation of the demyelinating disease.

Acute Disease↗

Microperimetry in patients with central serous retinopathy.

In patients with acute central serous retinopathy (CSR), evaluation of visual acuity alone may not represent visual function. In patients with acute CSR, visual function may be disturbed by localized scotomas, distortion, and waviness. For the assessment of localized light sensitivity and stability of fixation, patients with CSR were evaluated by fundus perimetry with a scanning laser ophthalmoscope (SLO 101, Rodenstock Instruments). In all, 21 patients with acute CSR and 19 healthy volunteers were included in the study. Diagnosis of CSR was established by ophthalmoscopy and digital video fluorescein angiography. All patients and volunteers underwent static suprathreshold perimetry with the SLO. Light sensitivity was quantified by presenting stimuli with different light intensities (intensity, 0-27.9 dB above background; size, Goldmann III; wavelength, 633 nm) using an automatic staircase strategy. Stimuli were presented with simultaneous real-time monitoring of the retina. Fixation stability was quantified by measuring the area encompassing 75% of all points of fixation. Light sensitivity was 18-20 dB in affected areas, whereas in healthy eyes and outside the affected area, values of 22-24 dB were obtained. Fixation stability was significantly decreased in the affected eye as compared with normal eyes (33 +/- 12 versus 21 +/- 4 min of arc; P < 0.01). Static perimetry with an SLO is a useful technique for the assessment of localized light sensitivity and fixation stability in patients with macular disease. This technique could provide helpful information in the management of CSR.

Acute Disease↗

Artifical vision for the blind: electrical stimulation of visual cortex offers hope for a functional prosthesis.

Electrical stimulation of the occipital cortex resulted in discrete photic sensations or "phosphenes" in two volunteers who had been totally blind for 7 and 28 years, respectively. Stimulation of multiple electrodes allowed one patient to recognize simple patterns, including letters. Both patients made an uneventful recovery, and the success of these experiments reinforces the hope that a functional visual prosthesis can be developed, although many problems remain to be solved.

Adult↗

Iron deficiency anemia in infancy: long-lasting effects on auditory and visual system functioning.

Evoked potentials provide noninvasive measures of nerve transmission and CNS functioning. Auditory brainstem responses (ABR) and visual evoked potentials (VEP) show dramatic changes in infancy, largely as a result of progressive myelination. Because iron is required for normal myelination, pathway transmission in these sensory systems might be affected by early iron deficiency. We previously reported evidence to that effect: infants with iron-deficiency anemia (IDA) had slower transmission through the auditory brainstem pathway, uncorrected by iron therapy. To determine long-term effects, ABR and/or VEP of healthy Chilean children who were treated for IDA or were nonanemic in infancy were compared at approximately 4 y of age. Absolute latencies for all ABR waves and interpeak latencies (except I-III interval) were significantly longer in former IDA children. Longer latency was also observed for the P100 wave on VEP. The magnitude of differences was large-about 1 SD. These findings, with differences in latencies but not amplitudes, further support the hypothesis that IDA in infancy alters myelination and provide evidence that effects on transmission through the auditory and visual systems can be long lasting. Subtle changes in sensory pathway transmission might be an underlying mechanism for the derailment of other developmental aspects in early IDA.

Anemia, Iron-Deficiency↗

[Eye-strain symptoms after work with a computer screen].

BACKGROUND: In a laboratory arranged according to ergonomic rules, the influence of the work with screen monitor computer on the visual function was evaluated. MATERIAL AND METHODS: Visual efficiency before and after one-hour reading of a text from monitor was compared in 60 persons. There was 50 women and 10 men, aged 22-47. The research scheme comprised 10 trials. RESULTS: After work with the monitor, the most important changes were the following: diminished power of accommodation, removal of the near point of convergence and deviation of phoria for near vision. Statistical analysis, using Wilcoxon's test revealed significant differences between the results achieved before and after work concerning accommodation and convergence (p < 0.05). CONCLUSION: The results suggest that weakness of these important visual functions could be the cause of eye-strain in computer operators.

Adult↗