• Journal of Korean Ophthalmic Optics Society
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• v.7 no.2
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• pp.33-39
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• 2002

The purpose of this study is to evaluate the effects of continuing work on VDT(video display terminal). Therefore, we examined visual fatigue by a questionnaire and measured frequency of blinking, tear film break-up time(BUT), height of palpebral fissure, visual acuity, refraction with retinoscopy and accommodation before and after two hour long VDT work. For the ocular symptoms, the greatest number was tired eyes accounting for 34%. In the visual symptoms, blurred vision was the highest rate of 83% and in case of systemic symptoms, shoulder pain was 38% marked top ranking but other symptoms were also distributed similar rate. The frequency of blinking during VDT work decreased significantly comparing with the one at rest. The average frequency of blinking is 8/min during VDT work and 22/min at rest. The BUT measured immediately after VDT work decreased much more than in the resting state. The average BUT was 7sec immediately after VDT work and 12sec at rest. The height of palpebral fissure during VDT work increased significantly comparing with the value at rest. The average height of palpebral fissure was 7.69mm at rest and 9.04mm during VDT work. The average visual acuity decreased almost 9.5% from 0.63 to 0.57, but refraction with retinoscopy increased about 0.28D to the direction of myopic shift. The amplitude of accommodation decreased approximately 1.49D from 7.98D to 6.49D and this resulted from the prolongation of near point of accommodation. Near point of convergence also was prolongated from 9.45cm to 10.30cm after VDT work.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.37-44
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• 2010

Purpose : Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play. To date, six Korean cases of Kabuki syndrome have ever been reported. Here, we present the phenotypic and genetic characteristics of six patients with Kabuki syndrome. Materials and Methods : Between 2003 and 2009, six Korean girls have been diagnosed and followed up as Kabuki syndrome at Center for Genetic Diseases of Ajou University Hospital. Their clinical and laboratory data were collected and analyzed by the retrospective review of medical records. Results : All six patients showed the characteristic facial dysmorphism and developmental delay. Persistent fingertip pads were also found in all patients. Most patients showed postnatal growth retardation (83.3%) and hypotonia (83.3%). Opthalmologic problems were common, particularly for strabismus (83.3%). Congenital heart defects were present in three patients (50%). Skeletal abnormalities including 5th finger shortening (83.3%), clinodactyly (50%), joint hypermobility (50%) and hip dislocation (16.7%) were also observed. There was no patient who had positive family history for Kabuki syndrome. Cytogenetic and molecular cytogenetic analyses including karyotyping and array CGH could not reveal any underlying genetic cause of Kabuki syndrome. Conclusion : Korean patients with Kabuki syndrome showed a broad spectrum of clinical features affecting multiple organ systems. Although clinical manifestations of Kabuki syndrome have been well established, our results failed to detect recurrent chromosome aberrations which could cause Kabuki syndrome. Its natural history and genetic background remains to be further studied for providing appropriate management and genetic counseling.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.103-108
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• 2017

Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.