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Biomedical subjects

C E Gilbert

Publications and source records attributed to C E Gilbert.

At least 19 recordsLinked to original sources

Causes of blindness and visual impairment in Pakistan. The Pakistan national blindness and visual impairment survey.

OBJECTIVE: To determine the causes of blindness and visual impairment in adults (> or =30 years old) in Pakistan, and to explore socio-demographic variations in cause. METHODS: A multi-stage, stratified, cluster random sampling survey was used to select a nationally representative sample of adults. Each subject was interviewed, had their visual acuity measured and underwent autorefraction and fundus/optic disc examination. Those with a visual acuity of <6/12 in either eye underwent a more detailed ophthalmic examination. Causes of visual impairment were classified according to the accepted World Health Organization (WHO) methodology. An exploration of demographic variables was conducted using regression modeling. RESULTS: A sample of 16 507 adults (95.5% of those enumerated) was examined. Cataract was the most common cause of blindness (51.5%; defined as <3/60 in the better eye on presentation) followed by corneal opacity (11.8%), uncorrected aphakia (8.6%) and glaucoma (7.1%). Posterior capsular opacification accounted for 3.6% of blindness. Among the moderately visually impaired (<6/18 to > or =6/60), refractive error was the most common cause (43%), followed by cataract (42%). Refractive error as a cause of severe visual impairment/blindness was significantly higher in rural dwellers than in urban dwellers (odds ratio (OR) 3.5, 95% CI 1.1 to 11.7). Significant provincial differences were also identified. Overall we estimate that 85.5% of causes were avoidable and that 904 000 adults in Pakistan have cataract (<6/60) requiring surgical intervention. CONCLUSIONS: This comprehensive survey provides reliable estimates of the causes of blindness and visual impairment in Pakistan. Despite expanded surgical services, cataract still accounts for over half of the cases of blindness in Pakistan. One in eight blind adults has visual loss from sequelae of cataract surgery. Services for refractive errors need to be further expanded and integrated into eye care services, particularly those serving rural populations.

Adult↗

The familial contribution to non-syndromic ocular coloboma in south India.

AIMS: To identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India. METHODS: Children with ocular coloboma without systemic features were recruited from multiple sources in Andhra Pradesh, India. Their families were traced, pedigrees drawn, and family members examined. RESULTS: 56 probands, 25 females (44.6%) and 31 males (57.4%) with a colobomatous malformation were identified. In 12 cases (21.4%) another family member was affected. The risk to siblings was 3.8%. The parents were consanguineous in 25 cases (44.6%). CONCLUSIONS: 21.4% of cases of isolated ocular coloboma in this highly consanguineous population of south India were familial, with both autosomal dominant and autosomal recessive mechanisms likely in different families.

Adolescent↗

Causes and temporal trends of blindness and severe visual impairment in children in schools for the blind in North India.

AIMS: To describe the causes of severe visual impairment and blindness (SVI/BL) in children in schools for the blind in north India, and explore temporal trends in the major causes. METHODS: A total of 703 children were examined in 13 blind schools in Delhi. A modified WHO/PBL eye examination record for children with blindness and low vision which included sections on visual acuity, additional non-ocular disabilities, onset of visual loss, the most affected anatomical part of the eye concerning visual impairment, and the aetiological category of the child's disorder based on the timing of insult leading to visual loss was administered in all children. RESULTS: With best correction, 22 (3.1%) were severely visually impaired (visual acuity in the better eye of <6/60) and 628 (89.3%) children were blind (visual acuity in the better eye of <3/60). Anatomical sites of SVI/BL were whole globe in 27.4% children, cornea 21.7%, retina 15.1%, and lens 10.9%. The underlying cause of visual loss was undetermined in 56.5% children (mainly abnormality since birth 42.3% and cataract 8.3%), childhood disorders were responsible in 28.0% (mainly vitamin A deficiency/measles 20.5%), and hereditary factors were identified in 13.4%. Study of temporal trends of SVI/BL by comparing causes in children in three different age groups-5-8 years, 9-12 years, and 13-16 years-suggests that retinal disorders have become more important while childhood onset disorders (particularly vitamin A deficiency) have declined. CONCLUSIONS: Almost half of the children suffered from potentially preventable and/or treatable conditions, with vitamin A deficiency/measles and cataract the leading causes. Retinal disorders seem to be increasing in importance while childhood disorders have declined over a period of 10 years.

Adolescent↗

Prevalence and causes of severe visual impairment and blindness in children in Mongolia.

BACKGROUND: Reliable epidemiological data on the prevalence and causes of visual loss in children are difficult to obtain, but are essential for planning. No such data are available from Mongolia. AIM: To determine the prevalence and causes of severe visual impairment and blindness (SVI/BL) in children from a defined area of Mongolia, using several methods of identification. METHODS: Children with presenting visual acuities of <6/60 in the better eye who lived in 10 of the 18 provinces (Aimaks) were identified 1) by family doctors 2) in the school for the blind 3) by visiting eye departments in the capital. All eligible children were examined (or data extracted from hospital records) and the cause of visual loss determined using the WHO classification system. RESULTS: Sixty-four children with SVI/BL before refraction were identified who lived in the 10 study Aimaks. They were recruited by family doctors (52); by home visits (3); from hospital records (4); or from the school for the blind (5). The prevalence of SVI/BL before refraction was 0.19/1,000 children (95% CI 0.16-0.22), decreasing to 0.16/1,000 after refraction (95% CI 0.13-0.19) but there was considerable variation from Aimak to Aimak. The major causes of SVI/BL were lesions of the lens (34%), central nervous system disorders (19%), lesions of the whole globe (e.g. microphthalmos) (14%), and retinal conditions (12.5%). Hereditary factors were responsible for 27% of causes, and 17% of children were blind following acquired conditions of childhood. The underlying cause could not be determined in 48%. The causes of SVI/BL was analysed in a further 16 children who lived outside the study Aimaks to compare the causes in children in special education with those not in schooling, and by age. CONCLUSION: The prevalence estimate obtained was lower than anticipated, and possible reasons are discussed. The pattern of causes of SVI/BL is similar to that in children in schools for the blind in China, but is very different from other Asian countries. Meningococcal meningitis was the most common preventable cause of SVI/BL, and immunisation is being considered. Other preventable causes were rare, and the majority of children needing surgical intervention had already been identified and referred for treatment. The control of blindness in children could possibly be improved by better management of conditions requiring surgery, and by the provision of low vision devices.

Adolescent↗

Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India.

This study aimed to describe clinical findings, pedigrees, and possible environmental risk factors in children with clinical anophthalmos and remnant microphthalmos in either eye in southern India. Twenty-four children (14 male, 10 female; mean age 10.3 years, age range 1.3 to 18 years,) were recruited from schools for the blind, hospitals, and community-based rehabilitation programmes in Andhra Pradesh, India, over 1 year. Family members were examined, and mothers interviewed. Fifteen children had anophthalmos and nine had remnant microphthalmos in one or both eyes. Twelve children had associated systemic findings, of which six were major and six were minor abnormalities. Information on consanguinity was available in 19 children, 12 of whom had consanguineous parents. Five children had a positive family history. Two mothers had a history of night blindness, and one had a history of pesticide exposure during pregnancy. High rates of consanguinity suggest a genetic recessive aetiology.

Adolescent↗

The heritability of age-related cortical cataract: the twin eye study.

PURPOSE: A classical twin study was performed to establish the relative importance of genes and environment in cortical cataract. METHODS: Five hundred six pairs of unselected female twin volunteers (226 monozygotic and 280 dizygotic) with a mean age of 62 years (range, 49-79 years) were examined. Cortical cataract was assessed using the slit-lamp-based Oxford Clinical Cataract Classification and Grading System (clinical grading) and the Wilmer Automated Grading System, which analyzed digital retroillumination images of subjects' lenses (digital grading). The worse eye categorized score for each individual was used in maximum likelihood path modeling of the correlations within twin pairs. These correlations were used to determine the underlying liability to cortical cataract. RESULTS: Prevalence of significant cortical cataract (>/=5% of lens area) was similar in monozygotic and dizygotic twins, occurring in 19.4% and 20.6% with the clinical grading system and 24% and 23% using the digital grading system, respectively. Modeling suggested liability to cortical cataract is explained by additive and dominant genes, individual environment, and age. Estimates of the broad sense heritability of cortical cataract were 58% (95% confidence interval [CI], 51%-64%) for the clinical grading system and 53% (95% CI, 45%-60%) for the digital system. Dominant genes were estimated to contribute to 38% (95% CI, 1%-64%) of the genetic effect with the clinical grading and 53% (95% CI, 28%-60%) with the digital grading. Individual environment explained 26% and 37% and age 16% and 11% of cortical cataract variance in clinical and digital gradings, respectively. CONCLUSIONS: Genetic effects are important in the development of cortical cataract and involve the action of dominant genes.

Aged↗

Genes and environment in refractive error: the twin eye study.

PURPOSE: A classical twin study was performed to examine the relative importance of genes and environment in refractive error. METHODS: Refractive error was examined in 226 monozygotic (MZ) and 280 dizygotic (DZ) twin pairs aged 49 to 79 years (mean age, 62.4 years). Using a Humphrey-670 automatic refractor, continuous measures of spherical equivalent, total astigmatism, and corneal astigmatism were recorded. Univariate and bivariate maximum likelihood model fitting was used to estimate genetic and environmental variance components using information from both eyes. RESULTS: For the continuous spectrum of myopia/hyperopia, a model specifying additive genetic and unique environmental factors showed the best fit to the data, yielding a heritability of 84% to 86% (95% confidence interval [CI], 81%-89%). If myopia and hyperopia (< or = -0.5 D and > or = 0.5 D, respectively) were treated as binary traits, the heritability was 90% (95% CI, 81%-95%) for myopia and 89% (95% CI, 81%-94%) for hyperopia. For total and corneal astigmatism, modeling showed dominant genetic effects are important; dominant genetic effects accounted for 47% to 49% of the variance of total astigmatism (95% CI, 37%-55%) and 42% to 61% of corneal astigmatism variance (95% CI, 8%-71%), with additive genetic factors accounting for 1% to 4% and 4% to 18%, respectively (95% CIs, 0%-13% and 0%-60%, respectively). CONCLUSIONS: Genetic effects are of major importance in myopia/hyperopia; astigmatism appears to be dominantly inherited.

Aged↗

Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins.

BACKGROUND: Age-related cataracts are a major public health problem. The relative importance of genes and environment in the causation of nuclear cataracts, the most common form of age-related cataracts, is not known. METHODS: We studied 506 pairs of female twins (226 monozygotic and 280 dizygotic) who were 50 to 79 years old (mean, 62). The amount of nuclear cataract in the right and left eyes was determined objectively by analysis of Scheimpflug lens photographs (yielding three measures) and subjectively with use of the Oxford Clinical Cataract Classification and Grading System (yielding one measure). All eight measures (four in each eye) were subsequently combined in one summary measure of nuclear cataract for each woman. A univariate maximum-likelihood model was used to estimate the variance of the genetic and environmental contributions to each of the measures. RESULTS: The different measures of cataract formation were highly correlated (correlation coefficients, 0.71 to 0.94). The mean scores were similar for the right and left eyes and for monozygotic and dizygotic twins. Quantitative genetic modeling of each of the nuclear-cataract scores invariably resulted in a best-fitting model that involved additive genetic effects, unique environmental effects, and age. The common environmental and dominant genetic effects could be removed from the models without significant loss of fit. The overall heritability in the combined nuclear-cataract score (the proportion of the variance explained by genetic factors) was 48 percent (95 percent confidence interval, 42 to 54 percent); age accounted for 38 percent of the variance (95 percent confidence interval, 31 to 44 percent) and unique environmental effects for 14 percent (95 percent confidence interval, 12 to 18 percent). CONCLUSIONS: Genetic effects are important even in such a clearly age-related disease as nuclear cataract, explaining almost 50 percent of the variation in the severity of this disease.

Age Factors↗

Visual acuity in children with coloboma: clinical features and a new phenotypic classification system.

OBJECTIVE: The aims of this study were to describe the clinical features and biometric findings in the eyes of children with coloboma and to develop a classification of coloboma that correlates with visual function. DESIGN: Retrospective observational case series. PARTICIPANTS: One hundred thirteen children and young adults (48 female, 65 male) aged 0 to 20 years with 196 eyes having coloboma. METHODS: Children with coloboma were recruited from schools for the blind, integrated education programs, schools for the mentally handicapped, community-based rehabilitation services, and hospital clinics in Andhra Pradesh, India, between January 1998 and January 1999. Visual function was assessed, including distance and near visual acuity (VA), and navigational vision. The corneal diameter and axial length of eyes were measured wherever possible. MAIN OUTCOME MEASURES: Anatomic site of coloboma, association with microcornea and/or microphthalmos, VA, presence of navigational vision and reading vision. RESULTS: Of 196 eyes with colobomatous malformations, 11 had microphthalmos with cyst, and 185 eyes had coloboma (associated with microcornea in 155 eyes and with a normal corneal diameter in 30). Microphthalmos was present in 72 of the 185 eyes with coloboma, of which 71 of 72 also had microcornea. The prognosis for vision depended on the phenotype of the better eye. Microphthalmos with cyst had the worst prognosis (VA < 3/60, 100%; reading and navigational vision, 0%). Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos (VA < 3/60: 66.7% vs. 23.3%; unable to read N10: 66.7% vs. 34.1 %; no navigational vision: 30.6% vs. 6.73%). Simple coloboma (no microcornea or microphthalmos) had the best prognosis (VA < 3/60: 6.7%; able to read N10: 93.3%; navigational vision: 100%). A corneal diameter <6 mm had a poor visual prognosis, whereas a corneal diameter >10 mm had a good prognosis. CONCLUSIONS: A phenotypic classification of coloboma is proposed, which in this study showed a good correlation with visual acuity, reading, and navigational vision. Microphthalmos with cyst had the worst prognosis, coloboma with microcornea and microphthalmos a poor prognosis, coloboma with only microcornea had an intermediate prognosis, and simple coloboma had the best prognosis.

Adolescent↗

Requirements for optical services in children with microphthalmos, coloboma and microcornea in southern India.

PURPOSE: The aim of the study was (1) to determine the need for spectacles in children in Southern India with coloboma, microphthalmos and microcornea, (2) to describe their refractive errors and (3) to assess their needs for low vision aids (LVAs). METHODS: Children with congenital eye anomalies were recruited from special education for the blind, schools for the mentally handicapped, community-based rehabilitation programmes and hospital records in Andhra Pradesh, India. All those with at least light perception vision (PL) in one eye and who had navigational vision were refracted. Those whose distance vision in their better eye improved with refraction were prescribed spectacles. Those unable to read N10 were assessed for LVAs for near. Those with distance visual acuity of < 6/18 in the better eye were assessed for telescopes to aid distance vision. RESULTS: Ninety-nine children with coloboma, microcornea or microphthalmos had functional vision. Eight unilateral cases were excluded. Ninety-one bilateral cases were refracted and assessed for LVAs. The vision in 52 children (57%) improved in the better-seeing eye by 1 or more lines of Snellen acuity with spectacles. Spectacles were prescribed most frequently for myopia associated with choroidal coloboma. After refraction, all 19 children with a visual acuity of 6/18 or better could read N10, and 43 of the 72 children (60%) with a visual acuity of < 6/18 to PL with functional vision could read N10 unaided, or with distance correction. A further 6 (8%) reached this level with magnifiers. Thirteen children (18%) were given telescopes. CONCLUSION: Children with congenital anomalies of the eye and functional vision benefit from refraction and low vision services.

Adolescent↗

Factors affecting pupil size after dilatation: the Twin Eye Study.

BACKGROUND/AIMS: Well dilated pupils make eye surgery easier. A classic twin study was established to examine the relative importance of genes and environment in the variance of pupil size after mydriasis, and to examine the effects of other factors such as age, iris colour, and refractive error. METHODS: 506 twin pairs, 226 monozygotic (MZ) and 280 dizygotic (DZ), aged 49-79 (mean age 62.2 years, SD 5.7) were examined. Dilated pupil size was measured using a standardised grid superimposed over digital retroillumination images taken 50-70 minutes after mydriasis using tropicamide 1% and phenylephrine 10%. Univariate maximum likelihood model fitting was used to estimate genetic and environmental variance components. RESULTS: Dilated pupil size was more highly correlated in MZ compared with DZ twins (intraclass correlation coefficients 0.82 and 0.39 respectively). A model specifying additive genetic and unique environmental factors showed the best fit to the data, yielding a heritability of 78-80%. Individual environmental factors explained 18-19% of the variance in this population. Age only accounted for 2-3% of the variance and refractive error and iris colour did not significantly contribute to the variance. CONCLUSIONS: Pupil size after mydriasis is largely genetically determined, with a heritability of up to 80%.

Aged↗

Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma.

BACKGROUND: The prevalence and causes of blindness in children vary widely between regions. Few epidemiological data are available on the relative importance of the major congenital anomalies of the globe (i.e., microphthalmos, anophthalmos, coloboma) as causes of blindness in children. The aim of this study was to determine the re-gional variation in the proportion of severe visual impairment and blindness due to congenital abnormalities of the globe in children in schools for the blind and in those identified through Community Based Rehabilitation programs. Other objectives were to estimate the prevalence of blindness due to major congenital abnormalities, and to investigate their etiology. METHODS: Data on the causes of blindness in children were collected between 1990 and 1998 using standard methods, definitions and reporting form in 26 countries. Children were examined in schools for the blind and in Community Based Rehabilitation programs. RESULTS: Of 7,113 children aged 3-15 years with severe visual impairment and blindness examined, 762 (10.7%) had microphthalmos, 161 (2.3%) had anophthalmos, and 96 (1.3%) had coloboma. There are large regional differences in the proportion of severe visual loss in blind school children, ranging from 1.4% in Cuba to 33.2% in Sri Lanka. Severe visual loss due to congenital abnormalities of the globe is estimated to affect between 0.4 and 16.2/100,000 children in the countries studied. An underlying cause could not be identified in 84.2%. CONCLUSIONS: Major congenital abnormalities of the globe are important causes of severe visual loss in children, particularly in Asian countries. Further research into etiology is warranted in order to plan prevention programs.

Adolescent↗

Evaluation of children in six blind schools of Andhra Pradesh.

PURPOSE: 1. To determine the anatomical site and underlying causes of severe visual impairment and blindness in children in special education in Andhra Pradesh, India. 2. To compare the causes of blindness in two different regions in the state. 3. To evaluate improvement with correction of refractive error and low-vision devices (LVDs). METHODS: Children in 6 schools for the blind and in 3 integrated education programmes were examined by one ophthalmologist, and were refracted and assessed for LVDs by an optometrist. The major anatomical site and underlying aetiology of severe visual impairment and blindness (SVI/BL; < 6/60 in the better eye) were recorded using the standardised WHO reporting form. RESULTS: Two hundred and ninety one students under 16 years were examined, and after refraction, 267 (91.7%) were classified as being severely visually impaired or blind. The most common anatomical sites of SVI/BL were retina in 31.1% children; cornea in 24.3%; and whole globe in 20.2%. The aetiology was unknown in 38.2%, hereditary in 34.8% and childhood causes in 24%. 114 children (39.2%) had functional low vision (i.e. visual acuity < 6/18 to light perception with navigational vision). In this group, 36 children improved with spectacles and 16 benefited by LVDs. 41 children (15.4%) were able to read N10 point though they were studying Braille. CONCLUSION: Overall 37.4% of children had "avoidable" causes of blindness. The major avoidable causes were vitamin-A deficiency and cataract. Vitamin-A deficiency and congenital anomalies were more common in the dry plateau areas of the state. One in seven children could read normal print with optical support.

Adolescent↗

Childhood blindness in Uzbekistan.

PURPOSE: To elucidate the aetiology of childhood blindness in the Republic of Uzbekistan and to assess the needs for future provision of ophthalmic services for children. METHODS: Six hundred and seventy-one children in seven schools for the blind and visually impaired throughout Uzbekistan were examined using the WHO/PBL (World Health Organization Prevention Of Blindness) childhood blindness proforma. The locations were chosen to give a representation of the major areas of population within the country. RESULTS: Of the 671 children examined, 506 (75.4%) were blind or severely visually impaired (corrected visual acuity of less than 6/60 (20/200) in the better eye). Cataract-related blindness (35%), retinal dystrophies (24%) and microphthalmos (23%) formed the three largest diagnostic categories. CONCLUSIONS: The commonest avoidable cause of blindness was found to be cataract; the cause of poor vision may be due to unoperated cataract, aphakia, amblyopia or post-operative capsular fibrosis. The high proportion of retinal dystrophies may be related to the common practice of consanguineous marriage. The frequent finding of microphthalmos is discussed and compared with findings from other surveys. Glaucoma accounted for approximately 5% of the avoidable blindness.

Adolescent↗

Prevalence of visual impairment in children: a review of available data.

Data on the prevalence, magnitude and causes of blindness and severe visual impairment in children are needed for planning and evaluating preventive and curative services for children, and for planning special education and low vision services. Prevalence data can be obtained from a variety of different sources, each of which has limitations. The available data suggest that there may be a ten-fold difference in prevalence between the wealthiest countries of the world and the poorest, ranging from as low as 0.1/1000 children aged 0-15 years in the wealthiest countries to 1.1/1000 children in the poorest. In this paper, the available data are reviewed and the epidemiological methods and findings are discussed.

Adolescent↗

Causes of childhood blindness in the People's Republic of China: results from 1131 blind school students in 18 provinces.

AIMS: To determine the anatomical site and underlying causes of blindness and severe visual impairment in children under 16 years of age in special education in the People's Republic of China with a view to determining potentially preventable and treatable causes. METHODS: A national study of children attending schools for the blind in China was conducted between April and June 1998 using the WHO Prevention of Blindness Programme (WHO/PBL) eye examination record for children with blindness and low vision. Eight Chinese ophthalmologists attended a training workshop before conducting the study. 36 blind schools in 18 provinces of China were included. RESULTS: 1245 children aged between 5 and 15 years were examined, of whom 1131 (91%) were blind or severely visually impaired (visual acuity less than 6/60 in the better eye). The commonest anatomical sites of visual loss were whole globe (mainly microphthalmos) 25.5% and retina (mainly dystrophies) 24.9%. Lens was the major site in 18. 8%, optic nerve in 13.6%, and glaucoma in 9%. Corneal scarring was not a major cause of visual loss. The aetiology was unknown in 52.9%, hereditary factors were responsible in 30.7%, and childhood causes in 14%. 15% of cases were considered potentially preventable and 22. 5% potentially treatable. CONCLUSION: The pattern of childhood blindness seen in this study is likely to reflect the improved health and socioeconomic status of China but may partly reflect bias in admission to, and location of, blind schools, with higher socioeconomic groups overrepresented. Nutritional and infective causes of blindness are uncommon, and hereditary and unknown factors are now the predominant causes.

Adolescent↗

Planning to reduce childhood blindness in India.

Reduction of blindness in children assumes particular significance since a blind child suffers from more blind-years than a blind adult. Estimates of the number of children blind in India and the causes of blindness are relatively crude as there are little reliable epidemiologic data. As a result of this, there is no organised approach to the control of childhood blindness in India. In order to address this issue, a workshop on childhood blindness was held at the L.V. Prasad Eye Institute, Hyderabad in November 1996. The aim of this workshop was to review available data, consider possible strategies, and make recommendations concerning the control of childhood blindness in India. These recommendations along with background information about childhood blindness are presented in this paper.

Adolescent↗