• Tuberculosis and Respiratory Diseases
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• v.59 no.6
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• pp.679-683
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• 2005

Cancer associated retinopathy (CAR) syndrome is a very rare ocular manifestation of paraneoplastic syndrome, and is characterized clinically by progressive visual impairment. Immune cross-reactivity between antigens in the cancerous tissue and antigens in the retina may play an important role in its pathogenesis, and most of cases are associated with lung carcinoma, particularly small cell lung cancer. The clinical triad of CAR is described as photosensitivity, ring scotomata, and an attenuated retinal arterial caliber. Here, we report a 61-year old male patient with CAR syndrome, who had small cell lung carcinoma in the stage of limited disease, with a brief review of the relevant literature.

• Clinical and Experimental Pediatrics
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• v.54 no.5
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• pp.219-223
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• 2011

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.

• Childhood Kidney Diseases
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• v.6 no.2
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• pp.266-271
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• 2002

There are several diseases characterized by neurologic abnormalities and renal disease. Joubert syndrome is one of them. Joubert syndrome Is a relatively rare autosomal recessive syndrome. The most significant and constant neurologic finding is hypoplasia of the cerebellar vermis. Joubert syndrome is associated with hypotonia, retinal dystrophy, abnormal eye movement, delayed development, abnormal respiratory pattern (neonatal episodic tachypnea or apnea) and nephronophthisis. We report a boy with Joubert syndrome associated with nephrocalcinosis and agenesis of the cerebellar vermis. This patient had also abnormal eye movement, hypotonia, abnormal respiratory pattern, delayed development and chronic renal failure.

• Korean Chemical Engineering Research
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• v.62 no.1
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• pp.118-124
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• 2024

A neural network is utilized for preprocessing of de-noizing in electrocardiogram signals, retinal images, seismic waves, etc. However, the de-noizing process could provoke increase of computational time and distortion of the original signals. In this study, we investigated a neural network architecture to analyze measurement data without additional de-noizing process. From the dynamical behaviors of DNA in aqueous solution, our neural network model aimed to predict the mole fraction of each DNA in the solution. By adding white noise to the dynamics data of DNA artificially, we investigated the effect of the noise to neural network's predictions. As a result, our model was able to predict the DNA mole fraction with an error of O(0.01) when signal-to-noise ratio was O(1). This work can be applied as a efficient artificial intelligence methodology for analyzing DNA related to genetic disease or cancer cells which would be sensitive to background measuring noise.

• Journal of Veterinary Clinics
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• v.41 no.3
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• pp.178-182
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• 2024

A 10-year-old spayed female Poodle was referred for blindness. On ophthalmic examination, loss of bilateral ocular pupil light reflex, visual loss, and right retinal detachment were confirmed at a local hospital. Magnetic resonance imaging (MRI) of the brain was performed to identify the optic nerve, optic chiasm, and brain disease. A sessile mass centered on the region of the optic chiasm was identified. The mass had iso- to hypointense on fluid-attenuated inversion recovery and T2-weighted images and mildly hypointense on T1-weighted images compared to the gray matter, with strong contrast enhancement. Peripheral edema was also identified. Computed tomography (CT) brain perfusion was performed to obtain additional hemodynamic information about the patient using a multislice CT. CT perfusion showed that the cerebral blood volume in the left temporal lobe region (13.4 ± 1.6 mL/100 g) was decreased relative to the contralateral region (19.9 ± 0.3 mL/100 g). The patient showed decreased appetite and consciousness one week after the CT scan with clinical symptoms worsened. The patient had seizure, tetraparesis, and loss of consciousness. It was euthanized one month later at the request of the owner. This report suggests that CT brain perfusion can provide additional hemodynamic information such as insufficient brain perfusion in sellar region tumor which can help assess potential complications and prognosis and plan treatment.

• Clinical and Experimental Pediatrics
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• v.53 no.2
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• pp.163-166
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• 2010

Purpose : Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. Methods : Funduscopy was conducted on 24 subjects, who were chosen among those diagnosed as having mitochondrial respiratory chain complex defect and who were clinically suitable for the criteria of Leigh syndrome. Their clinical features, ophthalmologic symptoms, and ophthalmologic examination results were retrospectively analyzed. Results : Of the 24 patients with Leigh syndrome, 11 developed ophthalmologic symptoms and no abnormal finding was observed in 13. The most frequent abnormal finding was visual disturbance in 5 patients. Funduscopy revealed abnormal findings in 17 patients; retinal pigmentation was the most frequent abnormality and was seen in 9 patients. Conclusion : Funduscopy can be an important screening test to find ophthalmologic abnormalities among patients with mitochondrial disease (MD), including those patients whose ophthalmologic symptoms are inconspicuous. It is predicted that an improved screening test can be made in the future that will identify risk factors related to ophthalmologic symptoms.

• Journal of The Korean Ophthalmological Society
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• v.59 no.11
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• pp.1024-1029
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• 2018

Purpose: We examined aqueous humor levels of 25-hydroxyvitamin D (vitamin D) in patients with age-related macular degeneration to investigate possible relationships between aqueous humor vitamin D levels and clinical manifestations. Methods: Patients > 50 years of age, 52 eyes of 34 patients with age-related macular degeneration, and 23 eyes of 17 patients treated with cataract surgery without retinal disease, were examined for aqueous humor vitamin D levels and compared. The experimental group was divided into two groups according to the median value of aqueous humor vitamin D levels. We compared the clinical manifestations of macular degeneration in both groups and identified relationships between aqueous humor vitamin D levels and clinical features. Results: Vitamin D levels in the aqueous humor were significantly lower in the experimental group than in the control group (experimental, $10.03{\pm}10.1ng/mL$ vs. control group, $40.8{\pm}16.4ng/mL$; p < 0.001). Patients with high vitamin D levels in the macular degeneration group had a higher percentage of fibrovascular pigment epithelial detachments than those in the low grade group (high grade group, 65% vs. low grade group, 27%; p = 0.003). Multiple linear regression analysis showed a significant correlation between vitamin D levels and the total number of anti-vascular endothelial growth factor intravitreal injections within 6 months (standardize coefficient, ${\beta}=-0.336$). Conclusions: Patients with wet age-related macular degeneration had significantly lower vitamin D levels in the aqueous humor compared to control group subjects of similar ages. However, in patients with macular degeneration, low vitamin D levels were associated with a greater number of intravitreal injections, while higher levels of vitamin D may lead to more advanced forms of fibrovascular retinal pigment epithelium and related low vision. These relationships were not always constant, so further studies on the relationships between local vitamin D levels and ocular disorders are needed.

• Radiation Oncology Journal
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• v.8 no.2
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• pp.169-176
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• 1990

Radiotherapy result was analyzed in 23 children with retinoblastoma treated in Seoul National University Hospital from 1980 to 1987. Three ($17\%$) had bilateral tumor at diagnosis. Among 20 children with unilateral retinoblastoma 13 children got radiotherapy after enucleation, 2 were treated with radiotherapy alone, and 5 were delivered with radiotherapy after relapse. Of 15 non-recurrent unilateral tumors, there were 5 stage II children, 8 stage III, and 2 stage IV by staging system proposed by St. Jude Children's Research Hospital. Chemotherapy was combined when resection margin of the optic nerve was positive or when malignant cell was found in CSF. Of 12 children who completed radiotherapy, local or distant failure was not found but 2 cases of relapse at the contralateral retina were observed. Their 5 year survival rate was $82.2\%$. Another case of contralateral relapse was detected in children who was treated with radiotherapy alone. Thus overall frequency of the bilateral disease was $33\%$. Prognosis of recurrent tumors were so poor that no cases of CR was obtained and that 3 year survival rate was $20\%$. Two of 3 bilateral cases at diagnosis were in NED status. Complication were sunken orbit only. Result of radiotherapy was so good in early stage or small bulk tumor that treatment delay after diagnosis must not be allowed.

• The Korean Journal of Vision Science
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• v.20 no.4
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• pp.421-429
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• 2018

Purpose : We identified correlation between macular thickness and RNFL (retina nerve fiber layer) measured by OCT and axial length in Korean children divided as three groups according to refractive errors. Methods : In total, 134 eyes of 67 Korean children who experienced no eye disease and ophthalmology surgery were involved in this study and then divided as three groups such as hyperopic, emmetropic and myopic groups. Macular thickness and RNFL thickness were measured with Cirrus HD-OCT, and axial length was done with IOL Master.Macular thickness and RNFL thickness were measured by Cirrus HD-OCT, and axial length using IOL Master. Correlation between axial length and retinal thickness in three groups according to refractive errors was investigated. Results : The type of refractive error measured by axial length was myopic, emmetropic and hyperopic groups in order, showing significant difference (p<0.05). The center thickness of macular was myopic, emmetropic and hyperopic groups in order, showing significant difference(p<0.05). The thicknesses of superior, nasal and inferior regions in peripheral macula were the thinnest in myopic group (p<0.05). It was shown that positive correlation was found between the center thickness of macula and axial length (r=0.283, p<0.05), while negative correlation was found between the peripheral thickness of RNFL and axial length. The temporal thickness of RNFL represented the thickest in myopic group, showing positive correlation with axial length(r=0.39, p<0.05). The superior, nasal and inferior thickness of RNFL represented negative correlation with axial length, showing statistically significant in the nasal thickness of RNFL(r=-0.23, p<0.05). Conclusion : Through this study, we identified correlation between macular thickness, the thickness of RNFL and axial length using OCT in Korean children, and also found the differences in three refractive error groups.

• Journal of The Korean Ophthalmological Society
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• v.59 no.12
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• pp.1152-1159
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• 2018

Purpose: We prospectively investigated clinical changes and long-term outcomes after administration of the drugs recommended by the Age-Related Eye Disease Study-2 to patients with intermediate age-related macular degeneration (AMD). Methods: This prospective multicenter study enrolled 79 eyes of 55 patients taking lutein and zeaxanthin. The primary endpoint was contrast sensitivity; this was checked every 12 months for a total of 36 months after treatment commenced. The secondary endpoints were visual acuity, central macular thickness, and drusen volume; the latter two parameters were assessed using spectral domain optical coherence tomography. Results: The mean patient age was $72.46{\pm}7.16years$. Contrast sensitivity gradually improved at both three and six cycles per degree. The corrected visual acuity was $0.13{\pm}0.14logMAR$ and did not change significantly over the 36 months. Neither the central macular thickness nor drusen volume changed significantly. Conclusions: Contrast sensitivity markedly improved after treatment, improving vision and patient satisfaction. Visual acuity, central retinal thickness, and drusen volume did not deteriorate. Therefore, progression of AMD and visual function deterioration were halted.