• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.32-36
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• 2016

Joubert syndrome (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS. Neck MRI showed no definite lesion or mass around the cervical sympathetic chain. His global development was delayed. He underwent ophthalmologic surgery, and showed some improvement in his ptosis. To the best of our knowledge, the association of HS with JS has not yet been described. We suggest that early neuroimaging should be considered for neonates or young infants with diverse eye abnormalities to evaluate the underlying etiology.

• Annals of Clinical Neurophysiology
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• 제21권2호
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• pp.94-97
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• 2019

The patients with myotonic dystrophy (MD) show ocular motor abnormalities including strabismus, vergence deficits, and inaccurate or slow saccades. Two theories have been proposed to explain the oculomotor deficits in MD. The central theory attributes the defects of eye movements of MD to the involvement of the central nervous system while the muscular theory attributes to dystrophic changes of the extraocular muscles. A 58-year-old woman with MD showed selective slowing of horizontal saccades and reduced peak velocities for both horizontal canals in head impulse tests, while smooth-pursuit eye movements and vertical head impulse responses were normal. This case suggests that the extraocular muscles-as a final common pathway of the voluntary saccade and reflexive vestibular eye movements-may better explain the defective rapid eye movements observed in MD.

• 대한유전성대사질환학회지
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• 제22권2호
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• pp.37-45
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• 2022

Inherited metabolic disorders (IMD) are a large group of rare disorders affecting normal biochemical pathways. The ophthalmic involvement can be very varied affecting any part of the eye, including abnormalities of cornea, lens dislocation and cataracts, retina and the optic nerve, and extraocular muscles. Eye disorders can be initial symptoms of some IMD and can be clue for diagnosis of IMD. However, eye disorders can evolve later in the natural history of an already diagnosed metabolic disorder. Awareness of IMDs is important to facilitate early diagnosis and in some cases instigate early treatment if a patient presents with eye involvement suggestive of a metabolic disorder. Ophthalmological interventions are also an important component of the multisystem holistic approach to treating patients with metabolic disorders.

• Annals of Clinical Neurophysiology
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• 제25권2호
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• pp.55-65
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• 2023

The ultimate role of ocular movements is to keep the image of an object within the fovea and thereby prevent image slippage on the retina. Accurate evaluations of eye movements provide very useful information for understanding the functions of the oculomotor system and determining abnormalities therein. Such evaluations also play an important role in enabling accurate diagnoses by identifying the location of lesions and discriminating from other diseases. There are various types of ocular movements, and this article focuses on saccades, fast eye movements, smooth pursuit, and slow eye movements, which are the most important types of eye movements used in evaluations performed in clinical practice.

• 생물정신의학
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• 제6권1호
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• pp.119-124
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• 1999

This study was done to examine whether cigarette smoking improved smooth pursuit eye movement(SPEM) abnormalities in chronic schizophrenic inpatients. Fifteen schizophrenic and twelve alcoholic subjects abstained from their usual cigarette smoking for a minimum of nine hours and their baseline performances during the constant velocity smooth pursuit tasks were assessed. Then, the subjects smoked as much as they desired in a 10 minutes period and were retested immediately after smoking and 15 minutes after smoking. Electrooculographic recordings during the eye movements were converted and saved as digitized files. Power spectral density curves and natural logarithm value of signal/noise(Ln S/N) ratios were computed from them. In the schizophrenic patients, Ln S/N ratios increased significantly immediately after smoking compared to baseline. But, Ln S/N ratios showed no statistically significant changes after 15 minutes compared to baseline. In alcoholic subjects, Ln S/N ratios showed no statistically significant changes immediately after smoking and after 15 minutes compared to baseline. In conclusion, SPEM was improved in schizophrenic patients immediately after smoking and we hypothesized that nicotinic receptor dysfunction maybe a candidate mechanism for smooth pursuit eye movement abnormalities in schizophrenia.

• Parasites, Hosts and Diseases
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• 제50권1호
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• pp.73-78
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• 2012

We report a case of intraocular gnathostomiasis diagnosed by western blot assay in a patient with subretinal tracks. A 15-year-old male patient complained of blurred vision in the right eye, lasting for 2 weeks. Eight months earlier, he had traveled to Vietnam for 1 week and ate raw wild boar meat and lobster. His best-corrected visual acuity was 20/20 in both eyes and anterior chamber examination revealed no abnormalities. Fundus examination showed subretinal tracks in the right eye. Fluorescein angiography and indocyanine green angiography showed linear hyperfluorescence of the subretinal lesion observed on fundus in the right eye. Ultrasound examination revealed no abnormalities. Blood tests indicated mild eosinophilia (7.5%), and there was no abnormality found by systemic examinations. Two years later, the patient visited our department again for ophthalmologic evaluation. Visual acuity remained 20/20 in both eyes and the subretinal tracks in the right eye had not changed since the previous examination. Serologic examination was performed to provide a more accurate diagnosis, and the patient's serum reacted strongly to the $Gnathostoma$ $nipponicum$ antigen by western blot assay, which led to a diagnosis of intraocular gnathostomiasis. This is the first reported case of intraocular gnathostomiasis with subretinal tracks confirmed serologically using western blot in Korea.

• Asian-Australasian Journal of Animal Sciences
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• 제23권10호
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• pp.1282-1290
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• 2010

The study was carried out to assess the developmental abnormalities induced by Cytotec in mice during intrauterine life. Pregnant mice were exposed to a single dose of 0, 0.02, 0.04, 0.06, 0.08 and $0.1{\mu}g$/g BW on day 8 of gestation. Fetuses were recovered on day 18 of gestation. These fetuses were subjected to morphological and morphometric studies. Morphological studies showed abnormalities like anophthalmia, microophthalmia, micromelia and syndactyly. In addition to these, resorptions were also encountered in the higher dose groups. Morphometric analysis showed an overall reduction in body weight, crown rump length, brain and eye circumference, pinna and snout size, length of fore and hind limb and tail size with a significant difference (p<0.001) compared to controls. The outcomes of histological studies revealed some brain defects like hydrocephaly, enlarged third ventricle and undifferentiated ectoneural cells and abnormalities of the heart included right auricle thrombosis and degeneration of trabecular zone.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제32권1호
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• pp.81-85
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• 2010

Multiple jaw cysts are one of the most constant features of the basal cell nevus syndrome. Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressiveness. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the skin, skeletal abnormalities as bifid rib and fusion of vertebrae, central nervous system abnormalities as mental retardation, eye abnormalities with multiple jaw cysts. The odontogenic keratocysts in patients with this syndrome are often associated with the crowns of unerupted teeth and huge size; on radiographs they may mimic dentigerous cysts. The most important feature of the cyst is its extraordinary recurrence rate. Since recurrence may be long delayed in this lesion, follow-up of any case of odontogenic keratocyst with roentgenograms and clinical examination of basal cell carcinoma are essential for at least five years after surgery. We report the result of 7-year follow up after cyst enucleation associated with basal cell nevus syndrome with the literature of review.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제28권2호
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• pp.136-140
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• 2002

Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressivity. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the skin, skeletal abnormalities as bifid rib and fusion of vertebrae, central nervous system abnormalities as mental retardation, eye abnormalities, and multiple odontogenic kerato cysts. In 1960, Gorlin and Goltz first described the features of this disease as constituting a true syndrome; since then, it has been realized that it is much more complex and encompassing than initially thought. This patient has many symtoms of basal cell nevus syndrome. - we has known multiple jaw cysts through panorama and facial computed tomography. He has hyperchromatism on basal cell through skin biopsy. In ophthalmologic consult, he has blindness on right. On his past medical history, amputation was done on his toes for polyductalism. - So we report with literature reviews

• 정신신체의학
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• 제15권2호
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• pp.73-80
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• 2007

지난 여러 해 동안 치매에서 나타나는 안구운동기능부전에 대해 수많은 논문이 발표되었다. 안구운동검사는 뇌의 기능을 평가하는 비침습적인 검사이며, 치매와 연관된 뇌의 이상을 밝혀내는데 유용한 방법이다. 저자는 치매와 연관된 안구운동이상에 대한 지금까지의 여러 연구들을 고찰해 보았다. 알쯔하이머병에서는 신속안구운동의 잠재기가 증가하고 정확도가 감소하며 항신속안구운동의 오류가 증가 한다. 전측두엽 치매 환자에서는 반사성 신속안구운동 억제의 장애와 항신속안구운동 잠재기와 오류 증가 소견이 나타난다. 그리고 헌팅톤병에서는 수의적인 신속안구운동의 시작 지연, 느린 신속안구운동, 항신속안구운동의 오류와 잠재기 증가 소견이 나타난다. 파킨슨병 치매와 루이체 치매 환자에서는 반사성 신속안구운동과 복합성 신속안구운동 실행 장애가 보고되었다. 크로이츠펠트-야콥 병에 관한 연구는 많지 않으며, 안구운동장애는 치매 증상이 명확해진 이후인 질병의 말기에 나타나고, 이차적으로 소뇌와 전정기관을 침범하게 된다고 한다. 진행성 핵상마비에서는 느린 신속안구운동과 측정저하 신속안구운동이 수직방향주시 장애가 오기 이전에 나타나는 경우가 많다. 수의적인 눈꺼풀 운동의 기능부전도 진행성 핵상마비의 특징적인 증상이다. 결론적으로 치매 환자들은 다양한 비정상적인 안구운동장애를 나타내며 이는 피질, 피질하 기능부전과 연관되어 있다. 치매 환자의 안구운동장애에 대한 다음 단계 연구는 치매에서 나타나는 임상적인 증상이 뇌의 어떤 부위 이상 때문에 발생하는지를 좀 더 명확하게 밝히는 것이 될 것이다.