Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases.

PURPOSE: There are major gaps in our knowledge of hereditary ocular conditions in the Asia-Pacific population, which comprises approximately 60% of the world's population. Therefore, a concerted regional effort is urgently needed to close this critical knowledge gap and apply precision medicine technology to improve the quality of lives of these patients in the Asia-Pacific region. DESIGN: Multi-national, multi-center collaborative network. METHODS: The Research Standing Committee of the Asia-Pacific Academy of Ophthalmology and the Asia-Pacific Society of Eye Genetics fostered this research collaboration, which brings together renowned institutions and experts for inherited eye diseases in the Asia-Pacific region. The immediate priority of the network will be inherited retinal diseases (IRDs), where there is a lack of detailed characterization of these conditions and in the number of established registries. RESULTS: The network comprises 55 members from 35 centers, spanning 12 countries and regions, including Australia, China, India, Indonesia, Japan, South Korea, Malaysia, Nepal, Philippines, Singapore, Taiwan, and Thailand. The steering committee comprises ophthalmologists with experience in consortia for eye diseases in the Asia-Pacific region, leading ophthalmologists and vision scientists in the field of IRDs internationally, and ophthalmic geneticists. CONCLUSIONS: The Asia Pacific Inherited Eye Disease (APIED) network aims to (1) improve genotyping capabilities and expertise to increase early and accurate genetic diagnosis of IRDs, (2) harmonise deep phenotyping practices and utilization of ontological terms, and (3) establish high-quality, multi-user, federated disease registries that will facilitate patient care, genetic counseling, and research of IRDs regionally and internationally.

Sleep Patterns in Children With Blindness: A Comparison With Normally Sighted Peers.

Purpose: Studies showing problematic sleep patterns in blind and visually impaired children are often based on (parent) self-report. The purpose was to compare sleep patterns of blind children to normally sighted peers using objective measures. Methods: In this cross-sectional study, 100 blind (best-corrected visual acuity <3/60) and 100 age- and gender-matched normally sighted children aged 7 to 17 years wore a digital activity monitoring device for 1 week. Sleep quantity (i.e., total sleep time and total time in bed) and sleep quality (number of awakenings, latency, efficiency, wake after sleep onset [WASO], and sleep fragmentation index) were measured. Adjusted linear regression analyses were used to model group differences in sleep parameters. Results: Data of 163 children were included. Blind children spent significantly less total time in bed in minutes (ß, -31; 95% confidence interval, -56 to -6) and had a lower total sleep time (-41; -66 to -17), smaller number of awakenings (-2.8; -4.5 to -1.0), a lower WASO (-10; -16 to -5), and a more efficient sleep pattern (1.5; 0.1 to 2.8) compared to normally sighted children. Conclusions: Although sleep quantity and recommended hours of sleep per night were lower among blind children than normally sighted children, their sleep quality was better. This contradicts findings of self-report studies and warrants further studies to measure sleep objectively. Further, the discrepancy between previous findings and our findings regarding sleep quality may be explained by the house rules of the boarding schools attended by blind children, which may facilitate improved sleep hygiene.

Causes of Moderate to Severe Visual Impairment and Blindness Among Children in Integrated Schools for the Blind and Visiting a Tertiary Eye Hospital in Nepal: The Nepal Pediatric Visual Impairment (NPVI) Study.

Purpose: To study the causes of moderate and severe visual impairment (VI) and blindness and its changing trends in Nepalese children. Patients and Methods: A cross-sectional descriptive study was conducted. Participants, aged 7 to 17 years were recruited from integrated schools for the blind and the outpatient department of a tertiary eye hospital in Kathmandu. VI and blindness were categorized according to World Health Organization (WHO) categories and its protocol for eye examination of children with blindness and VI was followed. Findings were compared to former studies from Nepal. Results: A total of 200 children were included, of whom 45% had moderate VI, 5% had severe VI, and 50% were blind. Mean age of children with VI and blindness was 11.1 (SD = 3.3) and 12.9 (SD = 3) years, respectively. Forty percent of children with VI and 38% of blind children were female. In our study, retina (39%) and whole globe (32%) were the most common anatomical site of involvement in children with VI and blindness, respectively, while cornea was the most common anatomical site of involvement in former studies. Heredity (43%) was the most common etiological factor although in 24.5% of all children, etiology was unknown. In 43.5% of children, blindness and VI was due to avoidable causes. Conclusion: In relatively many children, the etiology of VI and blindness could be either prevented or treated. Compared to former studies from Nepal, there is a changing trend in the etiology of severe VI and blindness.

Knowledge Assessment on Cortical Visual Impairment Among Ophthalmologists in Nepal.

INTRODUCTION: Cortical visual impairment (CVI) in children is a retro chiasmal visual tract disorder where there is with an impairment in the visual acuity and/or functionality of vision-guided task, including motor planning in the presence of normal ocular findings or minimal ocular morbidity. The study was conducted to assess the knowledge about CVI among ophthalmologists practicing in Nepal. MATERIALS AND METHODS: This was a cross sectional study. Data collection was done by administering a preformed, validated questionnaire that was sent via email to all the ophthalmologists registered under the Nepal Ophthalmic Society. The email mentioned the aim of the study along with the questionnaire. RESULTS: A total of 146 (37.82%) ophthalmologists responded to the questionnaire. Forty four percent of the participants were general ophthalmologists, 28% were pediatric ophthalmologists and 67% were ophthalmologists from other subspecialty. The median age of participants was 37.6 years. Most of the ophthalmologist had a good knowledge about the cause, common risk factors, clinical risk factors, management and prognosis of CVI. However only 29.5% of participants were aware of the investigation of choice for diagnosing CVI and 31.7% were aware of the leading causes of visual impairment in the developed countries. The study also established that the knowledge score was higher in pediatric ophthalmologists than the general ophthalmologist and ophthalmologists from other specialties. CONCLUSION: Most of the ophthalmologists had a good knowledge about the cause, common risk factors, clinical features, management and prognosis of CVI. However only a limited number of participants were aware of the investigation of choice for diagnosing CVI and the leading causes of visual impairment in the developed countries. Majority of the participants rarely examined patients with CVI which does not correlate with the high prevalence of perinatal hypoxia, the commonest cause of CVI, in our country.

Validation of smartphone-based screening for retinopathy of prematurity in a low-resource setting.

PURPOSE: To study the validity of smartphone-based screening to detect moderate-to-severe levels of retinopathy of prematurity (ROP) in a low-resource setting. METHODS: In this observational validation study, all new patients at a single center who met screening criteria for ROP (birth weight of ≤1700 g and gestational age of ≤35 weeks) were examined by a pediatric ophthalmologist using indirect ophthalmoscopy. At the first ROP examination, a trained photographer captured fundus images using a smartphone fitted on an adapter, the Paxos Scope. The photographs were graded by two retina specialists masked to results of the gold standard examination. RESULTS: A total of 100 children (200 eyes) were included. ROP was detected in 27.4% by indirect ophthalmoscopy, 16% of whom had moderate-to-severe ROP, defined as stage 3 in zone I or II, stage 2 in zone I or II, or pre-plus or plus disease. Sensitivity of fundus images reviewed by grader 1 against the gold standard in detecting moderate-to-severe ROP was 87.5%, and specificity was 82.1%. The positive predictive value was 48.3 %; the negative predictive value, 97.2%. The sensitivity of fundus images reviewed by grader 2 was 87.5%; the specificity, 81.6%. Positive predictive value was 47.5%; negative predictive value, 97.2%. The measured κ coefficient for intergrader agreement was 0.94. CONCLUSIONS: Our study is one of the few studies on smartphone-based telescreening for ROP. The results suggest that smartphones may have potential as a screening tool for ROP in low-resource settings.

Translation and cross-cultural adaptation of a Nepali version of the Dutch Participation and Activity Inventory for Children and Youth (PAI - CY) with visual impairment.

BACKGROUND: Visual impairment is an important cause of disability in children. There is a lack of information on rehabilitation needs and low vision support services for children with visual impairment in Nepal. This is a pilot study designed to translate, culturally adapt and pre-test the Dutch version of the Participation and Activity Inventory for Children and Youth (PAI-CY) with visual impairment aged 7-17 years to develop a Nepali version. Questionnaires (PAI-CY versions for 7-12 and 13-17 years) were translated using standardized methods and were culturally adapted by a panel of experts. They were pretested to evaluate comprehensibility and relevance among six children with visual impairment and blindness. Finally, participants completed a questionnaire evaluation form. RESULTS: The translation and cultural adaptation process resulted in the adaptation of nine items to make them suitable for Nepali culture. Most children had comprehensibility problems with some specific items because of vocabulary, sentence structure and the composition of items. Most of the children were satisfied with the questionnaires. CONCLUSION: The study resulted in the development of a Nepali version of the PAI-CY. We worked with a small group of content experts and a small but representative sample of children which allowed us to use rigorous translation procedures to address language and cultural differences. A population based study has been planned to investigate the psychometric properties of these questionnaires.

A Teenager with Vernal Keratoconjunctivitis and Pellucid Marginal Degeneration, Presenting with Exotropia.

BACKGROUND: Vernal keratoconjunctivitis (VKC), an allergic disease, has a known association with ectatic disorders of the cornea. Pellucid marginal degeneration (PMD) is a bilateral, asymmetrical, ectatic disorder of the cornea characterized by inferior corneal thinning. We report a case of sensory exotropia due to PMD in association with VKC. CASE DETAILS: A 19-year old boy with a history of VKC presented with exotropia of the right eye of 3 years' duration. His unaided vision in his right eye was 1/60 and in his left eye it was 6/36. On examination, both eyes had high against the rule astigmatism, which was more in the right eye. There was exotropia of 15º (40 prism diopter base in) in the right eye with suppression (Worth four dot test). Corneal examination in both eyes showed inferior band thinning, 2 mm above the inferior limbus, extending from 4 to 8 clock hours, with bulging of the cornea just above the thinning. The clinical features were suggestive of PMD, which was supported by his corneal scans - Atlas, Pentacam, and Optovue. Although he was undergoing treatment for VKC, the onset of PMD and decrease in vision went unnoticed. The asymmetric error which was not corrected during the sensitive period of visual development led to sensory exotropia. CONCLUSION: A child with VKC should undergo regular refraction so as not to miss any ectatic changes occurring in the cornea. A delay in diagnosing corneal ectasia may negate the possibility of collagen cross-linking which prevents progression of ectasia. If visual rehabilitation is delayed beyond the age of visual maturation, it can lead to strabismus, suppression, and loss of binocular function.

Genetic analysis of children with congenital ocular anomalies in three ecological regions of Nepal: a phase II of Nepal pediatric ocular diseases study.

BACKGROUND: Genetic eye diseases constitute a large and heterogeneous group of childhood ocular morbidity. Individual diseases may cause multiple structural anomalies and developmental features. Nepal Pediatric Ocular Disease Study (NPODS) was a population-based epidemiological study conducted across three ecological regions of Nepal to determine the prevalence and etiology of childhood ocular morbidity and blindness. In Phase II of this study, genetic analysis was performed for children who were found to have congenital ocular anomalies. METHOD: It was a cross sectional descriptive study. A total of 10,270 children across three different ecological regions in Nepal (Low lands, hills, and mountains) underwent ocular examinations in NPODS. Out of 374 (3.6%) of children with ocular abnormalities, 30 were thought to be congenital in nature. Targeted genetic analysis, including genotyping for genes specific to presenting phenotype, was performed for 25 children using serum samples. RESULTS: Out of 25 children, 18 had meaningful genetic results. Analysis revealed one missense alteration G12411T of Zinc Finger Homeobox 4 (ZFHX4) gene in one participant among 10 with congenital ptosis and another missense variation T > C P. Y374 C of Signaling Receptor and Transporter Retinol 6 (STRA6) gene in one participant among 3 with microphthalmos. CONCLUSION: The study is first of its kind from Nepal and mutant genes were unique to Nepalese Population. Further analysis of genetic factors is crucial to better understand genetic association with ocular diseases and conditions. This helps further in genetic counseling and probably gene therapy to prevent blindness from these conditions.

Profiles of Cortical Visual Impairment (CVI) Patients Visiting Pediatric Outpatient Department.

INTRODUCTION: Cortical visual impairment denotes vision loss from pathology posterior to the lateral geniculate nucleus. The pathology may involve the optic radiations, as well as the occipital cortex. OBJECTIVE: To find out the profiles of cortical visual impairment patients visiting the pediatric outpatient department. MATERIALS AND METHODS: The study is a hospital based retrospective study in which all consecutive patients diagnosed with cortical visual impairment were included. A total of 40 patients were collected. Detailed history taking and clinical examination was done. Visual acuity was taken by fixation and follows method. Among 40 patients, only two patients were advised to use glass and the rest did not have significant refractive error. Myopia ranged from (-2D to -5D) and five patients were myopic. Astigmatism ranged from (-0.5 to -2.5 x 108°) and 10 patients had astigmatism. Suspected patients were advised for Computed Tomography/ Magnetic Resolution Imaging (CT/MRI) of the brain. RESULTS: The male: female ratio was 3:2, the age group ranged from 4 months to 8 years old, antenatal checkup history was uneventful in 77.5% cases, history of birth asphyxia was present in 87.5% cases, postnatal checkup history was eventful in 67.5%, associated systemic illness was present in 60%, anterior segment examination was normal in 92.5%, posterior segment examination was normal in 72.5%, CT/MRI findings were abnormal in 57.5% and was not done in 30% of cases. Antenatal history was described as uneventful if there was absence of diabetes mellitus, hypertension, fever and intake of any medicine. Postnatal history was described as uneventful if there was absence of febrile convulsion, meningitis, encephalocele, encephalopathy, epilepsy or hydrocephalus. CONCLUSION: Birth asphyxia and postnatal infections are the major causes for cortical visual impairment. We can mitigate cortical visual impairment by limiting birth asphyxia and postnatal infections.

Lightning Injury to Eye: Brief Review of the Literature and Case Series.

PURPOSE: In ophthalmology, injuries due to lightning strikes have been documented as various entities ranging from keratitis, cataracts, uveitis in the anterior segments to retinal detachments, papillitis, and macular hole formation in the posterior segment. We report the largest case series so far with a total of seven cases of lightning injuries with ocular involvement and its management and a brief review of the literature on this topic. PATIENTS AND METHODS: All of the patients were evaluated for ocular injuries due to a lightning strike and each of the cases has been individually described as case series with their findings and management in this report. RESULTS: Ocular injuries caused by lightning are very rare, but when they occur, they can present with various ocular tissue pathology-ranging from anterior to the posterior segment structures. Most of the cases presented with maculopathy and foveschitic lesions, which resolved over time with the use of steroids. CONCLUSION: Lightning injuries to the eyes, if detected early and managed appropriately, have a very good prognosis. The recovery is usually good with minimal functional loss if there is a quick referral. The macular region seems to be particularly involved in most cases and OCT can be a valuable diagnostic tool to detect and monitor the pathology.

Perceived stigma of leprosy among community members and health care providers in Lalitpur district of Nepal: A qualitative study.

BACKGROUND: Leprosy remains a major stigmatizing condition. Stigma is a dynamic process resulting from the interaction between physical attributes caused by leprosy and the existing stereotypes in a community. Leprosy has pervasive impacts on all areas of life including psychosocial burden to an individual, social interaction, marriage, and employment. These impacts vary and are largely dependent on a particular culture and community. The main objective of this study was to explore the perceived stigma of leprosy amongst community members and health care providers in Lalitpur district of Nepal. METHODS: A total of six focused group discussions (FGDs) with 43 participants from a community living close to Anandaban Leprosy Hospital and ten semi structured interviews (SSIs) with health care providers were conducted between October and December 2016. An interview guide was used for the FGDs and SSIs. All qualitative data were transcribed and translated into English and were thematically analyzed using Atlas.ti software. RESULTS: Visible deformities due to leprosy was one of the major contributing factors for stigma. Stigma was further exacerbated by an attitude to conceal the disease due to perceived fear of potential discrimination. While over the years, stigma was felt to be decreasing, various aspects of life were still affected by leprosy stigma including marriage, employment and social interaction. This was largely attributed to leprosy and its consequences, specifically the disability and deformity caused by leprosy. CONCLUSION: Leprosy was still perceived to be feared and concealed because of potential discrimination, even within the community that was close to a long established leprosy hospital. Various aspects such as marriage, employment and social interaction were still affected by the stigma which was strongly associated with visible deformities. In addition to ongoing rehabilitation and stigma reduction programs, integrating strategies such as community engagement wherein community and leprosy affected person jointly take a role in stigma reduction programs can be helpful.

Pediatric cataract surgery with hydrophilic acrylic intraocular lens implantation in Nepalese children.

PURPOSE: To assess the outcome of cataract surgery with hydrophilic acrylic intraocular lens (IOL) implantation in children with congenital and developmental cataracts. METHOD: A retrospective review of medical records of children with congenital or developmental cataracts who underwent cataract surgery with hydrophilic IOL implantation, from January 2011 to December 2014 in a tertiary eye hospital in Nepal. Primary posterior capsulotomy, anterior vitrectomy, and IOL implantation was done in children 8 years or younger, while older children underwent only lens aspiration and IOL implantation. RESULTS: A total of 178 eyes of 120 children underwent cataract surgery with primary IOL implantation. Mean age at the time of surgery was 6.9 years (range: 3 months to 15 years). Average follow-up time was 13.7 (±5.9) months. Associated ocular anomalies were present in 84 (47.1%) eyes. Postoperative complications were found in 33 eyes (18.13%) with inflammatory membrane being the most common (10.1%). Two eyes (1.1%) developed endophthalmitis. Second intervention was needed in 12 (6.5%) eyes. Preoperative vision of less than 6/60 was present in 105 eyes (57.69%). Final best corrected visual acuity of 6/12 or better was found in 81 (44.5%) eyes. CONCLUSION: Our study shows that hydrophilic IOL is suitable for use in children. Results of this study are comparable with other studies on pediatric cataract surgeries using hydrophobic acrylic intraocular lenses. Low cost hydrophilic lens implantation is an effective approach in managing pediatric cataract surgery in developing countries like Nepal.

Environmental factors associated with ocular morbidity among children in three ecological regions of Nepal: a phase II Nepal Pediatric Ocular Diseases Study.

PURPOSE: The Nepal Pediatric Ocular Diseases Study (NPODS) was a 3-year (January 2012-December 2014) longitudinal study carried out in three ecological regions of Nepal to understand the magnitude of the problems of childhood ocular morbidity and blindness. Based on the results of this study, a second phase of NPODS was undertaken to understand the risk factors associated with childhood ocular diseases. This paper analyzes environmental factors. METHOD: This was a nested case-control study with study population selected from the same cohort of children included in the baseline survey of NPODS. The study areas were the same (three districts from three ecological regions: Sindhupalchowk from mountain, Makawanpur from hills, and Sarlahi from terai). After sample size calculation, cases and controls were taken in 1:4 ratio and matched for age, sex, and location. RESULTS: A total of 830 children (166 cases, 664 controls) were selected with 5.4 % of cases and 2.7 % of control participants nonresponders. Among environmental factors, children who stayed with their mother during cooking, who had with fewer windows in their kitchen, and who used dusty roads to school had significant association with ocular morbidities. Similarly, children with cable TV in their house had higher chance of having refractive error. CONCLUSIONS: Many of the environmental factors associated with ocular diseases in children are modifiable. Improving the household environment is likely to effectively decrease the burden of eye diseases. The association of refractive error with increased indoor and near activities is an important finding, reported herein for the first time in Nepalese children.

Causes of visual impairment and blindness in children in three ecological regions of Nepal: Nepal Pediatric Ocular Diseases Study.

PURPOSE: To study the causes of blindness and visual impairment in children in three ecologically diverse regions of Nepal. MATERIALS AND METHODS: This is a baseline survey report of a 3-year longitudinal population-based study. One district each from the three ecological regions - Terai, Hills, and Mountains - was selected for the study. Village Development Committees from each district were selected by random sampling. Three community health workers were given training on vision screening and identification of abnormal ocular conditions in children. Health workers who examined children and collected data using pretested questionnaire performed house-to-house surveys. Children with abnormal vision or ocular conditions were referred to and examined by pediatric ophthalmologists. RESULTS: A total of 10,950 children aged 0-10 years, 5,403 from Terai, 3,204 from Hills, and 2,343 from Mountains, were enrolled in the study. Of them, 681 (6.2%) were nonresponders. The ratio of boys to girls was 1.03:1. Prevalence of blindness was 0.068% (95% confidence interval [CI] 0.02%-0.12%) and visual impairment was 0.097% (95% CI 0.04%-0.15%). Blindness was relatively more prevalent in Terai region (0.08%, 95% CI 0.02%-0.13%). The most common cause of blindness was amblyopia (42.9%) followed by congenital cataract. Corneal opacity (39%) was the most common cause of unilateral blindness. CONCLUSION: More than two-thirds of the causes that lead to blindness and visual impairment were potentially preventable. Further, nutritional and genetic studies are needed to determine the factors associated with ocular morbidity and blindness in these regions.

Factors associated with childhood ocular morbidity and blindness in three ecological regions of Nepal: Nepal pediatric ocular disease study.

BACKGROUND: Nepal Pediatric Ocular Diseases Study is a three year longitudinal population based study. Here we present the baseline survey report which aims to investigate various risk factors associated with childhood ocular morbidity and blindness in three ecological regions of Nepal. METHOD: This baseline survey is a population based cross sectional study. The investigation was conducted in a district from each of the following regions: Terai, Hill and Mountain. The Village Development Committees (VDCs) from each district were selected by random sampling. Three Community health workers were given training on vision screening and identification of abnormal ocular signs in children. They conducted a house to house survey in their respected districts examining the children and gathering a standardized set of data variables. Children with abnormal vision or ocular signs were then further examined by pediatric ophthalmologists. RESULTS: A total of 10950 children aged 0-10 years (5403 from Terai, 3204 from the hills, 2343 from the mountains) were enrolled in the study. However 681 (6.2%) were non responders. The male to female ratio was 1.03. The overall prevalence of ocular morbidity was 3.7% (95% CI of 3.4%-4%) and blindness was 0.07% (95% CI of 0.02%-0.12%). Ocular morbidity was more prevalent in the mountain region whereas blindness was more prevalent in the Terai region.Children from the Terai region were more likely to suffer from congenital ocular anomalies compared to the other regions. Children whose mother smoked, drank alcohol, or was illiterate were significantly afflicted with ocular diseases (p < 0.05). In addition,a higher prevalence of ocular disease was related to children with past medical history of systemic illnesses, abnormal postnatal period or missing childhood vaccinations. Blindness was more prevalent in children who suffered from a systemic illness. Females and under-nourished children were more likely to have ocular morbidity and blindness. CONCLUSION: It was found that childhood blindness was more prevalent in the Terai region, the undernourished, females and in those with co-morbid systemic illnesses. This study strongly suggests that prevention of childhood blindness requires additional resources to address these disparity.

Magnitude and determinants of refractive error among school children of two districts of Kathmandu, Nepal.

PURPOSE: The purpose of this study is to assess the magnitude and determinants of refractive error among school children of Lalitpur and Bhaktapur districts in Kathmandu Valley of Nepal. MATERIALS AND METHODS: A descriptive study was carried out in 2003 in four schools; two in each district. A detailed ocular examination was conducted of all children attending these schools and that included visual acuity testing, slit lamp examination, fundus evaluation, retinoscopy, cycloplegic refraction and subjective refraction. Myopia was defined as more than -0.5 D and hypermetropia was defined as error of more than +1 D. RESULTS: A total of 2000 students of 5-16 years of age were examined. The prevalence of refractive error was 8.60% (95% confidence interval [CI] 7.37-9.83). The prevalence of myopia was 6.85% (95% CI 5.74-7.96). The best-corrected visual acuity was 6/9 or less in the eye of 12.8% children with refractive error. CONCLUSIONS: Refractive error is of public health magnitude among school children of 14-16 years of age. School screening program in countries like Nepal for early detection of treatable disease is useful to detect and correct refractive error in older students.