An Overview of the Korean Intermittent Exotropia Multicenter Study by the Korean Association for Pediatric Ophthalmology and Strabismus

The Korean Intermittent Exotropia Multicenter Study (KIEMS), which was initiated by the Korean Association of Pediatric Ophthalmology and Strabismus, is a collaborative multicenter study on intermittent exotropia in Korea. The KIEMS was designed to provide comprehensive information, including subjective and objective findings of intermittent exotropia in a large study population. A total of 65 strabismus specialists in 53 institutions contributed to this study, which, to date, is one of the largest clinical studies on intermittent exotropia. In this article, we provide a detailed methodology of the KIEMS to help future investigations that may use the KIEMS data.

An Overview of the Korean Intermittent Exotropia Multicenter Study by the Korean Association for Pediatric Ophthalmology and Strabismus

The Korean Intermittent Exotropia Multicenter Study (KIEMS), which was initiated by the Korean Association of Pediatric Ophthalmology and Strabismus, is a collaborative multicenter study on intermittent exotropia in Korea. The KIEMS was designed to provide comprehensive information, including subjective and objective findings of intermittent exotropia in a large study population. A total of 65 strabismus specialists in 53 institutions contributed to this study, which, to date, is one of the largest clinical studies on intermittent exotropia. In this article, we provide a detailed methodology of the KIEMS to help future investigations that may use the KIEMS data.

Early Functional Connectivity Predicts Recovery from Visual Field Defects after Stroke / 대한뇌졸중학회지

BACKGROUND AND PURPOSE: We aimed to assess whether early resting-state functional connectivity (RSFC) changes measured via functional magnetic resonance imaging (fMRI) could predict recovery from visual field defect (VFD) in acute stroke patients. METHODS: Patients with VFD due to acute ischemic stroke in the visual cortex and age-matched healthy controls were prospectively enrolled. Serial resting-state (RS)-fMRI and Humphrey visual field (VF) tests were performed within 1 week and at 1 and 3 months (additional VF test at 6 months) after stroke onset in the patient group. The control group also underwent RS-fMRI and a Humphrey VF test. The changes in RSFCs and VF scores (VFSs) over time and their correlations were investigated. RESULTS: In 32 patients (65±10 years, 25 men), the VFSs were lower and the interhemispheric RSFC in the visual cortices was decreased compared to the control group (n=15, 62±6 years, seven men). The VFSs and interhemispheric RSFC in the visual cortex increased mainly within the first month after stroke onset. The interhemispheric RSFC and VFSs were positively correlated at 1 month after stroke onset. Moreover, the interhemispheric RSFCs in the visual cortex within 1 week were positively correlated with the follow-up VFSs. CONCLUSIONS: Interhemispheric RSFCs in the visual cortices within 1 week after stroke onset may be a useful biomarker to predict long-term VFD recovery.

A Case of Leber Hereditary Optic Neuropathy Showing Optic Disc Hyperfluorescence

PURPOSE: We report an unusual case of Leber hereditary optic neuropathy presenting with optic disc hyperfluorescence. CASE SUMMARY: A 17-year-old male with sequential painless visual loss 3 weeks apart affecting first the left and then the right eye presented to our neuro-ophthalmology clinic. His best-corrected visual acuity was counting fingers in the right eye and 0.32 in the left eye. Fundus examination showed mild optic disc edema and hyperemia in both eyes, which were worse in the right eye. Fluorescein angiography revealed dye leakage from the right optic disc in the late phase. The results of magnetic resonance imaging of the brain and spinal cord were normal, and lumbar puncture study was unremarkable. Mitochondrial DNA sequencing revealed a pathognomonic 11778 mutation for Leber hereditary optic neuropathy. His vision deteriorated to 0.03 in both eyes 6 months later, but slowly started to improve 11 months after onset. At 2 years, his corrected visual acuity was 0.2 in both eyes. CONCLUSIONS: To our knowledge, this is the first report of optic disc hyperfluorescence in Leber hereditary optic neuropathy. This finding suggests that this mitochondrial optic neuropathy can masquerade as optic neuritis.

Analysis on Transitional Change of Refractive Error Distributions in Pediatric Population Using KNHANES

PURPOSE@#To investigate transitional changes in refractive error distributions in a pediatric population using the Korean National Health and Nutrition Examination Survey (KNHANES) data.@*METHODS@#We investigated 7,181 subjects from the 4th and 5th (2008–2012) KNHANES and 1,225 subjects from the 7th (2016) KNHANES; all subjects were 5 to 18 years of age. We used the average spherical equivalent (SE) of both eyes calculated with noncycloplegic refractive errors measured via autorefractor. We determined SE percentiles by age in order from hyperopia to myopia. We acquired the mean SE by age. We investigated the proportions of subjects with mild, moderate, and severe refractive errors by age.@*RESULTS@#Mean refractive errors were −1.73 ± 2.16 diopters in subjects in the 4th and 5th KNHANES and −1.66 ± 2.21 diopters in subjects in the 7th KNHANES; these were not significantly different between the two groups (p = 0.071). Mean refractive errors were more myopic in subjects in the 4th and 5th than in subjects in the 7th KNHANES only at 8 and 9 years of age (p = 0.018, p = 0.026). The distribution of percentiles by age was similar between the two groups. The respective proportions of hyperopia, emmetropia, and myopia were 6.2%, 27.6%, and 66.2% in subjects in the 4th and 5th survey, and 7.3%, 29.7% and 63.0% in subjects in the 7th survey. There was no significant difference in refractive error proportion between the 2 groups (p = 0.326).@*CONCLUSIONS@#There was no definite transitional change of refractive error distributions between the two KNHANES groups. However, additional periodic surveys are needed to confirm this hypothesis.

Correlations among Refractive Error, Axial Length, and Corneal Power in Childhood

PURPOSE: To investigate sexual differences and correlations among refractive error, axial length (AL), and corneal power. METHODS: A retrospective review of the medical records for 2,006 eyes of children aged 5–16 years was conducted. Cycloplegic refraction and AL measurements were performed on all eyes. Sexual differences in corneal power and AL were investigated in emmetropic eyes and after adjustment for the spherical equivalent (SE). The distribution of AL with every 1 diopter (D) interval was determined. Quantitative correlations among SE, corneal power, and AL were analyzed using multiple regression analyses. RESULTS: The mean age of the subjects was 7.62 years and the mean SE was −0.10 D. Males had a longer AL and lower corneal power than females both in emmetropic eyes and in all subjects after adjustment for the SE. The AL increased 0.40 mm for every −1 D change of the SE. When compared to a 1 D interval of the SE, the AL difference between the upper and lower values of a 95% confidence interval was 2.98 mm, which showed the variability of the AL distribution. Eyes with a long AL had lower corneal power (p < 0.001). Every 1 mm change of AL resulted in a −2.1 D change in the SE, and every 1 D change of corneal power resulted in a −0.8 D change in the SE (p < 0.001). CONCLUSIONS: The distribution of the AL and corneal power was variable, even in eyes with the same refractive error. The AL and corneal power differed by sex. Quantitative correlations between the SE, AL, and corneal power can be clinically used in the estimation of these parameters.

Reduction of Blue Light Emission in Internet-protocol Television and Its Effect on Ocular Fatigue

PURPOSE: The blue light emitted from electronic devices may be harmful to the eye. We investigated whether internet-protocol television (TV) with lowered blue light emission reduced ocular fatigue. METHODS: A total of 98 healthy subjects were recruited. They watched an animated movie (A) and an identical version except for reduced blue light (B), sequentially for 1 hour in random order. Before and after watching the movies, we measured the distance and near refraction and tear break-up time objectively. Ocular discomfort score and the earliest onset time of the ocular fatigue symptoms were also measured using our specially designed subjective ocular discomfort scale. RESULTS: The median age of the participants was 28.5 years, and there were 56 females out of 98 total participants. Both distance and near refraction were not significantly different before versus after watching the movies, nor between viewing movies A and B. However, the accommodative amplitude measured by subtracting the near refraction from the distance refraction was found to be greater after watching movie B compared with movie A in a subset of subjects with hyperopia [1.92 vs. 1.72 diopters (D) for the right eye and 2.14 vs. 1.83 D for the left eye; p = 0.04 and p < 0.01, respectively]. The ocular discomfort score was lower (15.40 vs. 12.85; p = 0.10), but not significantly, and the earliest ocular fatigue onset time was significantly delayed (23.48 vs. 34.51 minutes; p < 0.01), after watching movie B. CONCLUSIONS: Reduction of blue light emission alleviated ocular fatigue caused by TV displays. Watching TV with lower blue light may provide benefits to hyperopic individuals by reducing eye strain and improving the accommodative amplitude.

A Case of Atypical Leber Hereditary Optic Neuropathy Associated with MT-TL1 Gene Mutation Misdiagnosed with Glaucoma

PURPOSE: Leber hereditary optic neuropathy (LHON) is one of the most common hereditary optic neuropathies caused by mutations of mitochondrial DNA. Three common mitochondrial mutations causing LHON are m.3460, m.11778, and m.14484. We report a rare mutation of the mitochondrial tRNA (Leu [UUR]) gene (MT-TL1) (m.3268 A > G) in a patient with bilateral optic atrophy. CASE SUMMARY: A 59-year-old female diagnosed with glaucoma 3 years earlier at a community eye clinic presented to our neuro-ophthalmology clinic. On examination, her best corrected visual acuity was 0.4 in the right eye and 0.7 in the left eye, and optic atrophy was noticed in both eyes. Optical coherence tomography revealed retinal nerve fiber layer (RNFL) thinning in both eyes; average RNFL thickness was 52 µm in the right eye and 44 µm in the left eye, but the papillomacular bundle was relatively preserved in both eyes. Goldmann perimetry demonstrated peripheral visual field defects, mostly involving superotemporal visual field in both eyes. Mitochondrial DNA mutation test showed an unusual mutation in MT-TL1 gene seemingly related to this optic neuropathy. CONCLUSIONS: We found a rare mutation (m.3268 A > G) of the mitochondrial DNA in a patient having bilateral optic atrophy, which led to the diagnosis of LHON. There have been previous reports about mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and infantile myopathy caused by MT-TL1 mutation, but this is the first case of LHON associated with the same mutation. In this case of LHON associated with MT-TL1 mutation, atypical clinical features were observed with a relatively mild phenotype and peripheral visual field defects.

Recurrent Ophthalmoplegia Presenting Different Clinical Features in a Patient with Anti-GQ1b Antibody Syndrome

No abstract available.

Analysis of Myopic Progression in Childhood Using the Korea National Health and Nutrition Examination Survey

PURPOSE: To investigate the degree, distribution, and change in refractive error in the pediatric population 5 to 20 years of age. METHODS: We collected data from 7,695 subjects aged 5 to 20 years who participated in the Korean National Health and Nutrition Examination Survey from 2008 to 2012. Non-cycloplegic refractive error was measured using an autorefractor. Mean spherical equivalent calculated from the measured refractive error data in both eyes was used. The subjects were categorized into mild, moderate, or high refractive abnormality or emmetropia according to the degree of refractive error. The degree and distribution of refractive error in all subjects and age-matched subjects were analyzed. The change in refractive error was analyzed according to age. RESULTS: Mean refractive error of the study subjects was -1.82 diopters. As subject age increased, myopia increased from +0.04 diopters at 5 years of age to -2.88 diopters at 20 years of age. Myopia was observed in 66.2% of subjects and accounted for only 18.5% of the 5-year-old subjects, but increased to 84.3% in the 20-year-old subjects. The rate among all study subjects was -0.19 diopters per year. The greatest myopic progression rate (-0.46 diopters per year) among all age groups was in subjects 7 to 9 years of age. Myopic progression continued until 16 years of age. CONCLUSIONS: The ratio of pediatric myopia subjects between 5 and 20 years of age was high in Korea. The rate of myopic progression was the fastest in subjects 7 to 9 years of age. After 16 years of age, myopic change paused.

Clinical Features and Molecular Characteristics of Korean Patients with Congenital Aniridia

PURPOSE: To introduce clinical features and molecular characteristics of Korean patients with congenital aniridia. METHODS: Patients with iris hypoplasia were diagnosed clinically as congenital aniridia and were included in the study. Best corrected visual acuity (BCVA) and associated ocular abnormalities (including severity of iris hypoplasia, nystagmus, keratopathy, and foveal hypoplasia), and findings in optical coherence tomography were analyzed. PAX6 analysis,multiplex ligation-dependent probe amplification (MLPA), genomic molecular karyotyping, and candidate gene sequencing were performed to detect genetic abnormalities. RESULTS: 28 patients from 18 families were included in the study. BCVA varied from hand motion to 20/25. No manifest nystagmus was found in 3 patients, but the rest of the patients had pendular horizontal nystagmus. Keratopathy was found in 23 patients, cataracts in 12 patients, and glaucoma in 4 patients. All patients had foveal hypoplasia, including one case with a subtle phenotype. The PAX6 mutation was detected in 13 families out of 18;2 (p.Trp162Leufs*38,p.Gly409Arg) were novel,3 families had the miss ensemutation, and 3 families had alargedeletion in the PAX6 gene. CONCLUSIONS: This study adds 2 novel PAX6 mutations related to congenital aniridia to those previously reported. Congenital aniridia is a serious, sight-threatening ocular malformation, but central vision and the degree of iris hypoplasia were highly variable. The PAX6 mutation was detected in 72% of the patients in this study, and there were no specific clinical features differentiating aniridia with and without PAX6 mutations.

Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?

BACKGROUND/AIMS: The aim of this study was to identify the profile of rare variants associated with Crohn's disease (CD) using whole exome sequencing (WES) analysis of Korean children with CD and to evaluate whether genetic profiles could provide information during medical decision making. METHODS: DNA samples from 18 control individuals and 22 patients with infantile, very-early and early onset CD of severe phenotype were used for WES. Genes were filtered using panels of inflammatory bowel disease (IBD)-associated genes and genes of primary immunodeficiency (PID) and monogenic IBD. RESULTS: Eighty-one IBD-associated variants and 35 variants in PID genes were revealed by WES. The most frequently occurring variants were carried by nine (41%) and four (18.2%) CD probands and were ATG16L2 (rs11235604) and IL17REL (rs142430606), respectively. Twenty-four IBD-associated variants and 10 PID variants were predicted to be deleterious and were identified in the heterozygous state. However, their functions were unknown with the exception of a novel p.Q111X variant in XIAP (X chromosome) of a male proband. CONCLUSIONS: The presence of many rare variants of unknown significance limits the clinical applicability of WES for individual CD patients. However, WES in children may be beneficial for distinguishing CD secondary to PID.

Surgical Outcome of Sensory Exotropia with Distant-Near Disparity

PURPOSE: To assess clinical features of sensory exotropia with distant-near disparity, surgical outcome, and compare according to amount of medical rectus resection. METHODS: Authors retrospectively reviewed medical records of patients of sensory exotropia with follow-up over 6 months. We defined patients with over 10 prism diopter (PD) disparity as distant-near disparity sensory exotropia (DND-XT) and without disparity as basic sensory exotropia (B-XT). First, we analyzed and compared data of visual acuity, cause and age of visual loss, amount of deviation. Second, Surgical failure was analyzed with dividing DND-XT into conventional surgery group as Parks' formula and reduced medial rectus resection group in accordance with disparity. Surgical success was defined as less than 10 PD deviation in distant, near fixation. RESULTS: B-XT consisted of 58 patients (40 males) and DND-XT of 33 patient (13 males). There was no significant difference between 2 groups in onset and cause of visual loss, deviation at distant fixation. But, log MAR visual acuity of worse eye was better in DND-XT than B-XT (1.74 +/- 0.78, vs. 2.10 +/- 0.74, p = 0.039). Average deviation in distant fixation in DND-XT was 46.55 +/- 16.59 PD in distant and 14.93 +/- 8.91 PD in near fixation. All patients underwent surgery of medial rectus resection and lateral rectus recession and average deviation was 6.83 +/- 7.71 PD at distant fixation, 3.02 +/- 0.69 PD at near fixation at last follow-up. Among 33 patients, 16 patients underwent conventional amount of surgery and 17 patients with reduced medial rectus resection. In patient with conventional surgery, 9 patients were surgical failure (8 patients of over-, 1 patient of under-correction) but in patient with reduced amount of resection, only 1 patient was under-correction. CONCLUSIONS: As a result of medial rectus resection and lateral rectus recession in DND-XT, more surgical failures due to over-correction were observed with conventional resection and higher surgical success was attained in consideration of disparity.

Clinical Features of Adie's Tonic Pupil: A Retrospective and Cross-Sectional Study

PURPOSE: To report the clinical features of Adie's tonic pupil. METHODS: The medical records of 22 patients who had been diagnosed with Adie's tonic pupil from February 1998 to February 2009, were retrospectively reviewed. On March 2010, a cross-sectional examination was performed in 16 patients (19 eyes) who underwent a follow-up of more than 1 year. Measurements included pupil size in room light, bright light and in darkness; near point of accommodation; presence of segmental iris palsy; light-near dissociation; denervation supersensitivity; corneal sensitivity; and deep tendon reflex (DTR). RESULTS: Among the patients studied, 16 were women in Adie's tonic pupils. Only 3 of patients had bilateral involvement. The mean age of onset was 38.3 years. The mean size of Adie's tonic pupils was 2.3 mm larger than the fellow eyes. Segmental iris palsy was detected in 93.8% of the patients. Denervation supersensitivity was observed in all patients. Light-near dissociation was present in 88.2% and over 90% of the patients had decreased DTR in the biceps, triceps, knee and ankle jerk. CONCLUSIONS: This cross-sectional study showed Adie's tonic pupil tended to become miotic and recover accommodation power over the years.

Accommodation and Convergence, Anomalies of Convergence

PURPOSE: Accommodation and convergence, the main factors of near vision complex on near vision associated with miosis are essential ocular movements for binocularity. Therefore, we attempted to find appropriate treatments for anomalies of accommodation and convergence. METHODS: The basic theories and anomalies of accommodation and convergence were reviewed. Various treatment modalities for anomalies of convergence were discussed and treatment guidelines were proposed. RESULTS: Anomalies of convergence were classified into convergence insufficiency, convergence insufficiency associated with accommodative insufficiency, convergence paralysis, convergence spasm, and convergence excess. Treatment was divided into non-surgical and surgical methods which include not only vision therapy and optical treatment using a prism after cycloplegic refraction, but also rectus muscle surgery. CONCLUSIONS: The choice of effective treatments according to various causes is necessary for anomalies of accommodation and convergence through complete eye examinations. Thus, not only simple refractive error measurement and glasses prescription for best corrected visual acuity are necessary, but also active treatment by fundamental ophthalmic and neurologic evaluation in hospitals.

A Case of Tuberculous Optochiasmatic Arachnoiditis / 대한내과학회지

Tuberculous optochiasmatic arachnoiditis (OCA) is a rare complication of tuberculous meningitis. We describe a 47-year-old female with tuberculous OCA confused with ethambutol-associated optic neuropathy. She was on anti-tuberculous treatment (i.e., isoniazid, rifampin, ethambutol, and pyrazinamide) for two months due to tuberculous meningitis. Visual impairment occurred during treatment, and ethambutol was changed to levofloxacin because of concern for ethambutol-associated optic neuropathy. Her visual impairment did not improve three months after anti-tuberculous treatment that excluded ethambutol, and she was referred to our hospital. Brain MRI showed enhancement of the optic chiasm and bilateral optic tract, and fundoscopy revealed bilateral optic nerve atrophy, suggesting tuberculous OCA. Her visual acuity was partially improved after anti-tuberculous treatment. Tuberculous OCA should be considered in addition to ethambutol-associated optic neuropathy for a patient with tuberculous meningitis who presents with visual impairment.

A Case of Tuberculous Optochiasmatic Arachnoiditis / 대한내과학회지

Tuberculous optochiasmatic arachnoiditis (OCA) is a rare complication of tuberculous meningitis. We describe a 47-year-old female with tuberculous OCA confused with ethambutol-associated optic neuropathy. She was on anti-tuberculous treatment (i.e., isoniazid, rifampin, ethambutol, and pyrazinamide) for two months due to tuberculous meningitis. Visual impairment occurred during treatment, and ethambutol was changed to levofloxacin because of concern for ethambutol-associated optic neuropathy. Her visual impairment did not improve three months after anti-tuberculous treatment that excluded ethambutol, and she was referred to our hospital. Brain MRI showed enhancement of the optic chiasm and bilateral optic tract, and fundoscopy revealed bilateral optic nerve atrophy, suggesting tuberculous OCA. Her visual acuity was partially improved after anti-tuberculous treatment. Tuberculous OCA should be considered in addition to ethambutol-associated optic neuropathy for a patient with tuberculous meningitis who presents with visual impairment.

A Case of Prolonged Bilateral Inferior Altitudinal Visual Field Defect in a Young Migraineur

PURPOSE: To report a case of prolonged bilateral inferior altitudinal visual field defect in a young migraine patient. CASE SUMMARY: A 13-year-old female patient presented with bilateral disturbance of visual acuity and visual field, which had begun one month before. She complained of headache, with recently increasing frequency, that occurred 3 or 4 days a week for about 2~3 hours duration, sometimes accompanied by nausea and located in the frontotemporal and retrobulbar area. Brain magnetic resonance imaging showed no abnormal finding in the brain and orbit. Her visual acuity was hand motion in both eyes and Humphrey visual field test showed bilateral inferior altitudinal visual field defect. Pupillary resonse was normal and extraocular muscle movement, anterior segment and fundus were also normal in ophthalmologic examination. Her best corrected visual acuity was 1.0 in both eyes by fogging method, but bilateral inferior altitudinal visual field defect persisted for 6 months follow-up. CONCLUSIONS: Bilateral inferior altitudinal visual field defect can be developed in a migraine patient without other causes. Careful examinations to rule out other causes such as ischemic optic neuropathy or brain infarct should be performed in a migraine patient who complains of visual disturbance.

A Case of Neuromyelitis Optica(Devic's Syndrome) with Acute Bilateral Central Retinal Artery Occlusion

Neuromyelitis optica(NMO) or Devic's syndrome is an uncommon clinical syndrome associating with unilateral or bilateral optic neuritis and transverse myelitis. It is rarely found in children and usually reported in adults with serious neurologic manifestations. We report a case of an 8-year-old girl with neuromyelitis optica whose first clinical manifestation was acute visual loss of both eyes. Initially the patient had been diagnosed with central retinal artery occlusion and optic neuritis by ophthalmologic examination, a brain magnetic resonance imaging, and cerebrospinal fluid findings. She was treated with intravenous methylprednisolone pulse therapy and heparinization. Then the treatments were replaced with oral prednisolone and warfarin. At the fifteenth day after the start of oral prednisolone tapering, she visited our emergency room for voiding difficulty and paresthesia on both legs. A spinal magnetic resonance imaging revealed increased signal intensity in T2-weighted images from cervical to lumbar level, and neuromyelitis optica- IgG(NMO-IgG) was detected in the patient's serum. After we diagnosed her as having neuromyelitis optica, intravenous methylprednisolone and nine courses of daily plasmapheresis were tried. However, the patient still had visual loss, pain, and sensory loss below the sixth thoracic dermatome, and we tried maintenance therapy with intravenous rituximab. We report our case with reviews of the related literatures.

Overview of the national health screening program for infant and children / 소아과

The mission of National Health Screening Program for Infant and Children is to promote and improve the health, education, and well-being of infants, children, families, and communities. Although the term 'diagnosis' usually relates to pathology, a similar diagnostic approach applies to the child seen primarily for health supervision. In the case of health, diagnosis determines the selection of appropriate health promoting and preventive interventions, whether medical, dental, nutritional, educational, or psychosocial. Components of the diagnostic process in health supervision include the health 'interview'; assessment of physiological, emotional, cognitive, and social development (including critical developmental milestones); physical examination; screening procedures; and evaluation of strengths and issues. Open and informed communication between the health professional and the family remains the most significant component of both health diagnosis and health promotion. Families complete medical history forms at their health supervision visit. Family-friendly questionnaires, checklists, and surveys that are appropriate for the child''s age are additional tools to improve and update data gathering. This type of information helps initiate and inform discussions between the family and the health professional. This article provides a comprehensive review of current National Health Screening Program for Infant and Children in Korea.