- Retinal Ganglion Cell Layer Thicknesses and Visual Functions in Patients with Bilateral Temporal Optic Atrophy
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Kim BG, Park JY, Oh WH, Choi J
- KMID: 2468481
- J Korean Ophthalmol Soc.
- 2020 Jan;61(1):92-100.
- doi: 10.3341/jkos.2020.61.1.92
PURPOSE: To investigate correlations between macular retinal ganglion cell (RGC) layer thickness and best-corrected visual acuity (BCVA) and visual field parameters in patients with bilateral temporal optic atrophy. METHODS: Thirty eyes... -
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- Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population
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Kim WJ, Shim YK, Choi SA, Kim SY, Kim H, Hwang H, Choi J, Kim KJ, Chae JH, Lim BC
- KMID: 2467787
- J Clin Neurol.
- 2020 Jan;16(1):75-82.
- doi: 10.3988/jcn.2020.16.1.75
BACKGROUND AND PURPOSE: The aim of this study was to expand the understanding of the genotype-phenotype spectrum of ATP1A3-related disorders and to evaluate the therapeutic effect of a ketogenic diet... -
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- A Case of Leber Hereditary Optic Neuropathy Showing Optic Disc Hyperfluorescence
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Park YJ, Lim HT
- KMID: 2431847
- J Korean Ophthalmol Soc.
- 2019 Jan;60(1):96-101.
- doi: 10.3341/jkos.2019.60.1.96
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... -
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- Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)
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Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW
- KMID: 2437188
- J Lab Med Qual Assur.
- 2018 Dec;40(4):199-210.
- doi: 10.15263/jlmqa.2018.40.4.199
Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance... -
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- Toxic Optic Neuropathy Caused by Chlorfenapyr Poisoning
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Park SJ, Jung JU, Kang YK, Chun BY, Son BJ
- KMID: 2426374
- J Korean Ophthalmol Soc.
- 2018 Nov;59(11):1097-1102.
- doi: 10.3341/jkos.2018.59.11.1097
PURPOSE: To report a case of toxic optic neuropathy caused by chlorfenapyr ingestion accompanied by central nervous system involvement. CASE SUMMARY: A 44-year-old female visited our clinic complaining of reduced visual... -
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- Exercise and Mitochondrial Remodeling in Skeletal Muscle in Type 2 Diabetes
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Lee H, Song W
- KMID: 2436604
- J Obes Metab Syndr.
- 2018 Sep;27(3):150-157.
- doi: 10.7570/jomes.2018.27.3.150
Exercise is regarded as a potent stimulus in modulation of glucose utility and mitochondrial adaptations in skeletal muscle, leading to enhanced metabolic health. As mitochondria play a crucial role in... -
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- Septo-optic dysplasia plus diagnosed in a middle-aged woman
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Oh ST, Kang MR, Oh SI, Kim EG, Kim SJ, Seo JH, Chung EJ, Ji KH
- KMID: 2454710
- Ann Clin Neurophysiol.
- 2018 Jul;20(2):85-88.
- doi: 10.14253/acn.2018.20.2.85
Septo-optic dysplasia is a congenital anomaly with diverse phenotypes from normal to mixtures of visual abnormality, endocrine dysfunction, psychomotor retardations and epileptic seizures. It is characterized by optic atrophy, pituitary... -
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- The Neuro-ophthalmic Presentation of Intracranial Aneurysms
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Yoon HG, Kim DH
- KMID: 2395870
- J Korean Ophthalmol Soc.
- 2017 Nov;58(11):1276-1281.
- doi: 10.3341/jkos.2017.58.11.1276
PURPOSE: To investigate the neuro-ophthalmic diagnosis and clinical manifestations of intracranial aneurysm. METHODS: A retrospective survey of 33 patients who were diagnosed with intracranial aneurysm and underwent neuro-ophthalmic examination from April... -
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- Ocular Findings in Mucolipidosis Type II
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Suh SY, Cheon CK, Jung JH
- KMID: 2378636
- J Korean Ophthalmol Soc.
- 2017 May;58(5):616-619.
- doi: 10.3341/jkos.2017.58.5.616
PURPOSE: To report ocular findings of a mucolipidosis type II patient with novel mutation. CASE SUMMARY: A 10-year-old boy visited our pediatric genetic metabolic clinic for evaluation of his overall developmental... -
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- Neurological Complications Resulting from Non-Oral Occupational Methanol Poisoning
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Choi JH, Lee SK, Gil YE, Ryu J, Jung-Choi , Kim H, Choi JY, Park SA, Lee HW, Yun JY
- KMID: 2364185
- J Korean Med Sci.
- 2017 Feb;32(2):371-376.
- doi: 10.3346/jkms.2017.32.2.371
Methanol poisoning results in neurological complications including visual disturbances, bilateral putaminal hemorrhagic necrosis, parkinsonism, cerebral edema, coma, or seizures. Almost all reported cases of methanol poisoning are caused by oral... -
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- A Case of Atypical Leber Hereditary Optic Neuropathy Associated with MT-TL1 Gene Mutation Misdiagnosed with Glaucoma
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Hahn IK, Lim HT
- KMID: 2367853
- J Korean Ophthalmol Soc.
- 2017 Jan;58(1):117-123.
- doi: 10.3341/jkos.2017.58.1.117
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,... -
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- Association between Mitofusin 2 Gene Polymorphisms and Late-Onset Alzheimer's Disease in the Korean Population
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Kim YJ, Park JK, Kang WS, Kim SK, Han C, Na HR, Park HJ, Kim JW, Kim YY, Park MH, Paik JW
- KMID: 2365016
- Psychiatry Investig.
- 2017 Jan;14(1):81-85.
- doi: 10.4306/pi.2017.14.1.81
OBJECTIVE: Mitochondrial dysfunction is a prominent and early feature of Alzheimer's disease (AD). The morphologic changes observed in the AD brain could be caused by a failure of mitochondrial fusion... -
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- Analysis of Pediatric Patients Referred for Decreased Vision of Unknown Origin
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Lee SB, Sung JY, Lee YH
- KMID: 2357732
- J Korean Ophthalmol Soc.
- 2016 Nov;57(11):1759-1764.
- doi: 10.3341/jkos.2016.57.11.1759
PURPOSE: To identify causes of conditions presenting with low vision without distinct abnormities in pediatric patients and to determine the appropriate diagnostic approach for those conditions. METHODS: We retrospectively reviewed medical... -
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- Influence of RNFL Thickness on Visual Acuity and Visual Field in Bilateral Temporal Optic Atrophy
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Park JY, Choi J, Oh WH, Kim JS
- KMID: 2290501
- J Korean Ophthalmol Soc.
- 2016 Jun;57(6):969-976.
- doi: 10.3341/jkos.2016.57.6.969
PURPOSE: To investigate the influence of retinal nerve fiber layer (RNFL) thickness on visual acuity and visual field in patients with bilateral temporal optic atrophy. METHODS: Patients with characteristic features of... -
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- Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency
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Talebi H, Yaghini O
- KMID: 2167671
- J Audiol Otol.
- 2016 Apr;20(1):53-54.
- doi: 10.7874/jao.2016.20.1.53
Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy... -
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- Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015)
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Kim HY, Park CH, Lee SJ, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, Korean Association of External Quality Assessment Service
- KMID: 2162120
- J Lab Med Qual Assur.
- 2016 Mar;38(1):22-42.
- doi: 10.15263/jlmqa.2016.38.1.22
The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated... -
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- Sellar-Suprasellar Extraventricular Choroid Plexus Papilloma : A Case Report and Review of the Literature
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Keskin F, Erdi F, Kaya B, Toy H
- KMID: 2152919
- J Korean Neurosurg Soc.
- 2016 Jan;59(1):58-61.
- doi: 10.3340/jkns.2016.59.1.58
Choroid plexus papillomas (CPPs) are relatively rare neuroectodermal tumors that develop from choroid plexus epithelial cells and are usually restricted to the ventricles. Extraventricular CPPs are very unusual and can... -
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- Annual Report on the External Quality Assessment Scheme for Diagnostic Genetics in Korea (2014)
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Park CH, Shin SY, Park H, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of External Quality Assessment Service
- KMID: 2200370
- J Lab Med Qual Assur.
- 2015 Jun;37(2):64-83.
- doi: 10.15263/jlmqa.2015.37.2.64
Quality control for genetic tests has become more important as testing volume and clinical demands have increased dramatically. The diagnostic genetics subcommittee of Korean Association of External Quality Assessment Service... -
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- The Influence of Pituitary Adenoma Size on Vision and Visual Outcomes after Trans-Sphenoidal Adenectomy: A Report of 78 Cases
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Ho RW, Huang HM, Ho JT
- KMID: 2067087
- J Korean Neurosurg Soc.
- 2015 Jan;57(1):23-31.
- doi: 10.3340/jkns.2015.57.1.23
OBJECTIVE: The aims of this study were to investigate the quantitative relationship between pituitary macroadenoma size and degree of visual impairment, and assess visual improvement after surgical resection of the... -
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- Seropositive Neuromyelitis Optica imitating an Intramedullary Cervical Spinal Cord Tumor: Case Report and Brief Review of the Literature
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Woo PY, Chiu JH, Leung KM, Chan KY
- KMID: 2270253
- Asian Spine J.
- 2014 Oct;8(5):684-688.
- doi: 10.4184/asj.2014.8.5.684
A 44-year-old woman with progressive cervical myelopathy and central cord syndrome was noted to have an extensive cervical intramedullary contrast-enhancing lesion on magnetic resonance imaging (MRI). The lesion resembled a... -
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