• BMB Reports
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• v.41 no.9
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• pp.651-656
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• 2008

A mouse with cataract, Kec, was generated from N-ethyl-N-nitrosourea (ENU) mutagenesis. Cataract in the Kec mouse was observable at about 5 weeks after birth and this gradually progressed to become completely opaque by 12 weeks. Dissection microscopy revealed that vacuoles with a radial or irregular shape were located primarily in the cortex of the posterior and equatorial regions of the lens. At the late stage, the lens structure was distorted, but not ruptured. This cataract phenotype was inherited in an autosomal recessive manner. We performed a genetic linkage analysis using 133 mutant and 67 normal mice produced by mating Kec mutant (BALB/c) and F1 (C57BL/6 $\times$ Kec) mice. The Kec locus was mapped to the 3 cM region encompassed by D14Mit34 and D14Mit69. In addition we excluded coding sequences of 9 genes including Rcbtb2, P2ry5, Itm2b, Med4, Nudt15, Esd, Lcp1, Slc25a30, and 2810032E02Rik as the candidate gene that causes cataract in the Kec mouse.

• Korean Journal of Veterinary Research
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• v.53 no.2
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• pp.133-136
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• 2013

To report multiple congenital ocular defects in a Bedlington terrier dog aged 2.5 months with blindness. Routine ophthalmic examinations were performed for the clinical signs. Menace responses and cotton ball test were absent in both eyes (OU), but pupillary light reflexes were normal in OU. Slit lamp biomicroscopy reveled corneal dystrophy, posterior subcapsular cataract, microphthalmia in OU and lenticular coloboma in the right eye. In indirect ophthalmoscopy and ultrasonography, retinal detachment and posterior lenticonus were shown in OU. It is the first report of lenticular coloboma and posterior lenticonus in a Bedlington terrier dog.

• Journal of Korean Ophthalmic Optics Society
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• v.1 no.2
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• pp.1-6
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• 1996

The most common cause of blindness is cataract. The possible causes, radiation, sugar, drugs, trauma, nutrition, congenital, secondary to eye disease etc. Generally, the opacification of the lens are the result fa oxidation of the lens fibers. The basis for lens transparency is the structural integrity of lens fibers. Opacities were occur if there is a significant amount of high molecular weight protein aggregates. If Ca ions combined with lens ${\alpha}$-crystallin proteins, the lens fibers were aggregated by high molecular weight proteins and the lens were opacified. If Ca ions detached from lens ${\alpha}$-crystallin proteins, the lens fibers were aggregated by low molecular weight proteins and the lens were re-cleared. We need to find out the variety of factors can initiated the process of age-related cataract. And to understanding the mechanism how the various kind, of diabetic cataracts occur.

• Journal of Korean Ophthalmic Optics Society
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• v.9 no.1
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• pp.75-79
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• 2004

Some ocular complications were connected to the contamination by the contact lens related. Especially the most cause of ocular complications was a microorganism from several processing of infections. Therefore the patients stopped the contact lens wear immediately by the side effects of ocular pathology. We had analyzed the microorganism from the laboratory. It was identified as mixed growth of the Chryseamonas meningosepticum and Enterobacter sp.

• Clinical and Experimental Pediatrics
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• v.57 no.3
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• pp.140-148
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• 2014

Purpose: Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome. Methods: The clinical findings and results of genetic studies were reviewed for 12 male patients diagnosed with Lowe syndrome at a single medical institution. Results: The mean age of the patients at presentation was 2.2 months (range, 0-4 months), although the diagnosis was delayed by a mean of 2.8 years (range, 0-9.7 years). The mean follow-up period was 9.0 years (range, 0.6-16.7 years). Nine mutations in OCRL were identified in 11 patients (92%), with three novel mutations. The main presentation was congenital cataract in both eyes necessitating early cataract removal in the 11 patients with impaired visual acuity. Profound short stature and developmental delay were observed in all patients, and seizures occurred in 50% of the patients. All patients suffered from proximal renal tubular dysfunction, and one patient developed chronic renal failure. Other manifestations included pathologic fracture (50%), cutaneous cysts (42%), and cryptorchidism (42%). However, there was no bleeding tendency, and none of the patients died during the study period. Conclusion: This study describes the clinical and genetic characteristics of Korean patients with Lowe syndrome. The observations are helpful for understanding the natural courses of Lowe syndrome and for appropriate genetic counseling.

• Journal of Preventive Medicine and Public Health
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• v.27 no.2 s.46
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• pp.337-365
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• 1994

Rubella is a viral disease with mild constitutional symptoms and generalized rashes. In childhood, it is an inconsequential illness, but when it occurs during early pregnant period, there are significant risks of heart defects, cataract, mental retardation to the fetus. The series of congenital defects induced by rubella is called 'congenital rubella syndrome'. Many research have been performed to find out more effective prevention program on rubella. The objectives of this study are, first, to calculate the incidence rate of acute rubella infection and congenital rubella syndrome in Korea, second, to evaluate economic efficiency of several rubella vaccination policies and to offer data for the most reasonable decision on vaccination policy. Study populations are 663,312 children of one year-old in 1992. The author has performed cost-benefit analyses according to the three vaccination policies-U.S.A.'s. U.K.'s and Sweden's. In this Study, the author got the incidence rate of acute rubella infection using the catalytic model. In the meantime, the author used 50 per 100,000 live births as the incidence rate of congenital rubella syndrome. The discount rate used in this study was 5 percent per annum. The sensitivity analyses were done with different discount rates (4%, 7%) and different incidence rate of congenital rubella syndrome (10,100 per 100,000 live births) : The study results are as follows: 1. Without vaccination, lifetime expenditures per patient for acute rubella infeciton amount to 14,822 won and the total expenditures to about 3.1 billion won. Meanwhile, lifetime expenditures per patient for congenital rubella syndrome amount to about 91 million won and the total expenditures to about 16.3 billion won without vaccination. 2. The cost of vaccination for a child of one year old was 2,322 won and the total cost for the one year old children was about 1.5 billion won (American style). The cost for vaccination of female children at fifteen was about 339 million won (Birtish style). And the cost of vaccination at one for both sex and female children at fifteen was about 1.9 billion won (Swedish style). 3. The benefit to cost ratios of vaccination of female children at fifteen that is the british mode of rubella vaccination, was 60.0 at the level of 80% population coverage and 48.6 at 100% coverage. It shows much higher benefit to cost ratio than those of the other two vaccination policies. 4. Both net benefits of vaccination at one (American style) and that of vaccinations at one and fifteen (Swedish style) range from about 17.0 billion to 17.8 billion won, those were larger than that of vaccinations of female children at fifteen (Birtish style, about 16.0 billion). 5. In marginal cost-benefit analysis of only additional program of revaccination, the benefit to cost ratios were 3.6 (80% coverage rate) or 0.6 (100% coverage rate). It implies that additional program was less efficient or inefficient. 6. In sensitivity analysis with different discount rates(4% or 7%) and different incidence rates of congenital rubella syndrome (10 or 100 per 100,000 live births), the benefit to cost ratios has fluctuated in wide range. However, all the ratios of vaccination of female children at fifteen were higher than those of the others. Even under the most conservative assumption, the benefit to cost ratios of all the rubella vaccination policies were higher than 3.3. In conclusion, all the rubella vaccination policies found to be cost-effective and particularly the vaccination of female children at fifteen was strongly recommended.

• Journal of Veterinary Clinics
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• v.25 no.6
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• pp.482-487
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• 2008

This study was performed to investigate the ophthalmic findings of the Korean traditional 'Sapsaree' dogs, and to provide ophthalmic references. Five hundred forty-seven Sapsaree dogs were randomly chosen without any criteria preference. Ophthalmic examination was performed bilaterally using ocular equipments, including slit-lamp biomicroscope, tonometer, direct and indirect ophthalmoscope. The obtained data for ophthalmic findings were analysis by the multivariate linear regression model to identify effects of sex, age and hair coat type. For congenital conditions, the incidence of persistent pupillary membrane (PPM) was the most common defect and there was present 8.8 % whereas for acquired ophthalmic diseases, cataract was the most commonly observed (3.7 %) in Sapsaree dog. Other frequent ocular finding included persistent hyaloid vessel remnant (PHVR, 6.2 %) in congenital conditions, and postinflammatory retinal degeneration (PIRD, 3.1 %) and corneal dystrophy (2.4 %) in acquired ophthalmic diseases. Only one significant effect was age of the Sapsaree for PIRD (P=0.040). There are no any significant effect for sex and hair coat types. This study will provide useful guidelines to clinicians and breeders for the basic ophthalmic information on this breed.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.2
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• pp.82-86
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• 2016

Lowe syndrome is X-linked gene disorder, characterized by cataracts, renal dysfunction and brain abnormalities. Oral healthcare of young patients with Lowe syndrome could be easily neglected due to the uncooperative behavior or other systemic condition of the child. We are presenting a case of successful treatment under general anesthesia with uncooperative child with Lowe syndrome. A 3-year old boy with Lowe syndrome visited Seoul National University Dental Hospital for multiple caries. He had been suffering from congenital cataract, medullary nephrocalcinosis and hypotonia. Multiple caries were observed from clinical and radiographic examination. Concerning behavior management problem and possibility of aspiration due to hypotonia, dental treatment under general anesthesia was planned. Left upper primary first molar was extracted to prevent further infection. Other teeth were treated with Stainless steel crown or composite resin restoration based upon the extent and the severity of dental caries. Under general anesthesia, dental procedure was carried out successfully and safely. Considering uncooperative behavior and other medical conditions of the patient, general anesthesia could be effective. Home oral care and periodic visit to dental clinic should be emphasized to the caregiver of patient with Lowe syndrome, considering the susceptibility of dental caries and other oral manifestation.