OBJECTIVE: To detect potential variants in a family affected with Usher syndrome type I, and analyze its genotype-phenotype correlation. METHODS: Clinical data of the family was collected. Potential variants in the proband were detected by high-throughput sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The proband developed night blindness at 10 year old, in addition with bilateral cataract and retinal degeneration. Hearing loss occurred along with increase of age. High-throughput sequencing and Sanger sequencing revealed that she has carried compound heterozygous variants of the MYO7A gene, namely c.2694+2T>G and c.6028G>A. Her sister carried the same variants with similar clinical phenotypes. Her daughter was heterozygous for the c.6028G>A variant but was phenotypically normal. CONCLUSION The clinical features and genetic variants were delineated in this family with Usher syndrome type I. The results have enriched the phenotype and genotype data of the disease and provided a basis for genetic counseling.
Child ; Female ; Genetic Variation ; Genotype ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Myosin VIIa ; genetics ; Night Blindness ; etiology ; Pedigree ; Phenotype ; Usher Syndromes ; genetics ; pathology

Introduction: Night eating syndrome (NES) has been progressively drawing attention and becoming a global concern due to its clinical implications. However, the study related to NES was found to be scarce in Malaysia. As such, this study aimed to determine the risk factors of NES among Malaysian public university students. Methods: This cross-sectional study involved 270 participants (mean age: 20.9±1.4 years), who were selected randomly from three different course disciplines at a public university in Selangor, Malaysia. The data were collected using a self-administered questionnaire on socio-demographic background, NES, depression, anxiety, stress, sleep quality, and disordered eating. Weight, height, and waist circumference of the participants were measured. Results: Results showed that 12.2% of the participants were engaged in NES. Binary logistic regression identified four significant risk factors of NES namely, being a male (AOR = 3.050, 95% CI = 1.129 – 8.238), persuading in a technical-stream course (AOR = 6.010, 95% CI = 2.057 – 17.555), being a stressful student (AOR = 3.580, 95% CI = 1.149 – 11.151), and having poor sleep quality (AOR = 4.664, 95% CI = 1.431 – 15.209). Conclusion: Early screening process should be conducted from time to time in which university students with potentially NES are able to receive necessary behavioural and cognitive therapy in order to recover.
Night eating syndrome ; Stress

BACKGROUND: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea. METHODS: Medical records and DNA samples from 86 clinically diagnosed IRD patients were consecutively collected between July 2011 and May 2015. We applied the next-generation sequencing strategy (gene panel) for screening 204 known pathogenic genes associated with IRD. RESULTS: Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies. ABCA4 was the most common causative gene associated with IRD and was responsible for causing Stargardt disease (n = 6), RP (n = 1), and cone dystrophy (n = 1). In particular, mutations in EYS were found in 4 of 14 autosomal recessive RP (29%). All cases of Stargardt disease had a mutation in the ABCA4 gene with an autosomal recessive trait. CONCLUSION: This study provided the distribution of genetic mutations responsible for causing IRD in the Korean patients. This data will serve as a reference for future genetic screening and treatment for Korean IRD patients.
Bardet-Biedl Syndrome ; Choroideremia ; Diagnosis ; DNA ; Genetic Testing ; Genetic Therapy ; Humans ; Korea ; Macular Degeneration ; Mass Screening ; Medical Records ; Night Blindness ; Retinal Diseases ; Retinaldehyde ; Retinitis Pigmentosa ; Vitelliform Macular Dystrophy

This study investigates the characteristics and clinical outcomes of different types of extended depth-of-focus and multifocal intraocular lenses (IOLs) to determine which IOL can increase patient satisfaction. Modern cataract surgery has undergone tremendous evolution in terms of IOL quality. Recently, different types of presbyopia-correcting IOLs have become commercially available. Among them, multifocal IOLs are the most frequently used. Multifocal IOLs are different from conventional monofocal IOLs because these have multiple focus, which enable patients to see both distant and near objects at the same time. Multifocal IOLs can be classified as either refractive or diffractive IOLs. Diffractive multifocal IOLs include traditional bifocal lenses and relatively new trifocal lenses, and are the most widely used multifocal IOLs owing to their good clinical performance. Trifocal IOLs have an advantage over bifocal IOLs in terms of intermediate visual acuity, but can cause decreased contrast sensitivity and night vision disturbances. Recently developed extended depth-of-focus IOLs are different from traditional multifocal IOLs in that these extend the focus, resulting in smooth continuous focus. It also has the benefit of better contrast sensitivity and improved visual quality over multifocal IOLs; however, is relatively weak in terms of near visual acuity.
Cataract ; Contrast Sensitivity ; Humans ; Lenses, Intraocular ; Night Vision ; Patient Satisfaction ; Presbyopia ; Visual Acuity

PURPOSE: To investigate the frequency of childhood sleep problems at pediatric clinics in Seoul and Gyeonggi provinces. METHODS: Children (n=936) and their parents who visited 5 primary and 1 secondary pediatric outpatient clinics were invited to complete a Pediatric Sleep Questionnaire. RESULTS: Among patients, 901 (96.3%) answered questionnaires in sufficient detail for evaluation. The participant's mean age was 4.35±3.02 years (range, 0–18 years). The male to female ratio was 1:0.93 (466 boys, 435 girls). Habitual snoring (>3 day/week) was reported in 16.9% of the participants. The prevalence of habitual snoring in children <2 years and those between 2–5 years was 9% and 18%, respectively. Sleep disordered breathing was found in 15.1% (106 of 700) of children >2 years. Insomnia was reported in 13.2% of children. The prevalence of sleepwalking, night terrors, and bruxism, is 1.6%, 19%, and 21.1%, respectively. Snoring was associated with increased incidence of sleepwalking, night terrors, and bruxism. Age was associated with insomnia and habitual snoring (P<0.05). Insomnia was more prevalent in younger (21%) than in older children (6%). Snoring was more frequent in both preschool (34%) and school-aged children (33%). The frequency of sleep disordered breathing and insomnia did not vary significantly with gender. However, snoring was more prevalent in boys. CONCLUSION: Sleep problems are frequent among children in Korea. Children with snoring have an increased risk of sleepwalking, night terror, and bruxism. Primary clinicians should consider children's sleep habits to improve their health.
Adolescent* ; Ambulatory Care Facilities ; Bruxism ; Child* ; Female ; Gyeonggi-do ; Humans ; Incidence ; Korea ; Male ; Night Terrors ; Parents ; Prevalence ; Seoul ; Sleep Apnea Syndromes ; Sleep Initiation and Maintenance Disorders ; Snoring ; Somnambulism

Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. This is the first report on a molecular genetic diagnosis of choroideremia in Korean individuals. Molecular diagnosis of choroideremia should be widely adopted for proper diagnosis and the development of new treatment modalities including gene therapy.
Atrophy ; Blindness ; Choroideremia* ; Clinical Coding ; Diagnosis ; Electroretinography ; Exons ; Genetic Therapy ; Humans ; Introns ; Molecular Biology ; Multimodal Imaging ; Night Blindness ; Visual Fields

After-hours care (AHC) provides medical care after the regular weekday work hours of clinics. In Korea, data from the National Emergency Department Information System showed that approximately 40% of the pediatric patients need AHC. To meet this need, many countries have different models of AHC. In this article, the authors tried to summarize and emphasize the advantages and disadvantages of AHC models in several leading countries. This article can be useful in designing AHC models in Korea because the proportions of potential patients requiring AHC are substantial, and the adoption of AHC models should be seriously considered.
After-Hours Care* ; Ambulatory Care Facilities ; Child ; Delivery of Health Care ; Emergency Service, Hospital ; Humans ; Information Systems ; Korea ; Night Care

After-hours care (AHC) provides urgent primary care at nighttime, weekends, and holidays. In Korea, individual primary care physicians seldom participate in AHC and many parents have difficulty in receiving primary care during non-office hours without going to an emergency department (ED). The ED is currently the only place to access a full range of services at any time. However, the ED is not optimized for AHC, and using it for AHC is not an efficient use of resources. Therefore, many countries are seeking a safe, efficient non-ED AHC model which provides the best care considering the limitations. Different models for AHC exist worldwide, varying from family doctor-based to hospital-based models, and some countries use several different models including 24-hr telephone triage and advice services (TTA). Common problems of AHC include the inaccessibility to primary care, discontinuity of care, expensive healthcare costs, and work dissatisfaction among health care professionals. These are the major reasons for the recent changes made to the AHC system in many countries, such as the integration into one single national TTA in the United Kingdom, support for group practices in Canada, reorganization of small practice rotation groups into large scaled, general practitioner cooperatives in the Netherlands, and rapid expansion of the urgent care industry in the United States. This review presents a brief overview of the current AHC in Korea and the need for an effective non-ED AHC model. An effective AHC system will improve the quality of care, financial saving, and job satisfaction of the health care professionals.
After-Hours Care* ; Ambulatory Care ; Ambulatory Care Facilities ; Canada ; Child ; Delivery of Health Care ; Emergency Service, Hospital ; General Practitioners ; Great Britain ; Group Practice ; Health Care Costs ; Holidays ; Humans ; Job Satisfaction ; Korea ; Netherlands ; Night Care ; Parents ; Physicians, Primary Care ; Primary Health Care ; Telephone ; Triage ; United States

Vitamin A deficiency can occur as a result of malnutrition, malabsorption, or poor vitamin metabolism due to liver disease and night blindness might develop as the first symptom. Although there have been foreign reports about night blindness due to vitamin A deficiency which was derived from liver cirrhosis, primary biliary cirrhosis, intestinal bypass surgery or bariatric operation, it is hard to find reports about night blindness after percutaneous transhepatic biliary drainage for external bile drainage. We report a case of night blindness derived from fat-soluble vitamin A deficiency developed after long-term (18 months) external bile drainage for benign biliary stricture occurred after left hepatic lobectomy and hepaticojejunostomy due to the Klatskin tumor (IIIb). Her night blindness and low serum retinol level (0.02 mg/L) was dramatically improved after vitamin A supplementation. We recommend lipid-soluble vitamin supplementation on the case of long-term external bile drainage.
Bile* ; Constriction, Pathologic ; Drainage* ; Jejunoileal Bypass ; Klatskin's Tumor ; Liver Cirrhosis ; Liver Cirrhosis, Biliary ; Liver Diseases ; Malnutrition ; Metabolism ; Night Blindness* ; Vitamin A ; Vitamin A Deficiency ; Vitamins

PURPOSE: To discriminate the visual symptoms and signs of Meares-Irlen syndrome (MIS) and nonspecific dyslexia from other ophthalmologic diseases (NODs). METHODS: Forty-five patients were enrolled. Thirty four of the patients with MIS whose symptoms improved with tinted lenses comprised MIS group. The other 11 patients whose reading difficulty improved with other ocular therapy and did not require tinted lenses comprised NODs group. The main symptoms causing dyslexia and associated ocular diseases were evaluated. RESULTS: The mean age was 17.9 +/- 9.5 years in MIS group, and 19.3 +/- 11.0 years in NODs group. In MIS group, the most common symptoms while reading were difficulty to move lines (85%), doubling (53%), and difficulty in bright condition (27%). On the other hand, blurring was the most common symptom in NODs group (45%). The associated ocular diseases in the two groups were refractive error (79% and 73%), dry eye (29% and 18%), and exophoria (6% and 27%), respectively. CONCLUSIONS: Doubling, difficulty to move lines, and difficulty in bright condition while reading are main specific symptoms in MIS compared to nonspecific dyslexia from other ophthalmologic disorders.
Adolescent ; Adult ; Child ; Color ; Diagnosis, Differential ; Dyslexia/*diagnosis ; Eyeglasses ; Female ; Humans ; Male ; Night Vision ; Perceptual Disorders/*diagnosis/therapy ; Reading ; Refractive Errors/diagnosis/therapy ; Republic of Korea ; Retrospective Studies ; Syndrome ; Vision Disorders/*diagnosis/therapy ; Young Adult