• Journal of The Korean Ophthalmological Society
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• v.58 no.4
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• pp.380-386
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• 2017

Purpose: To compare the clinical characteristics and prognosis of Fuchs dystrophy patients according to COL8A2 gene mutation status. Methods: Eighty-one patients (162 eyes) initially diagnosed with Fuchs dystrophy from 1996 to 2015 were divided into two groups according to COL8A2 gene mutation status. Retrospective analysis was performed comparing gender, age at diagnosis, presence of family history, diabetes mellitus, symptoms of blurred vision in the morning, changes in central corneal thickness and endothelial cell density with time, need for corneal transplantation, and pre-operative corneal status in the two groups. Results: Of the 81 patients, 12 were shown to harbor a COL8A2 gene mutation. Individuals with mutation were significantly associated with presence of family history, diabetes mellitus, and blurred vision in the morning (p = 0.021, p = 0.024, p = 0.044, respectively). They also had significantly thicker central cornea and lower endothelial cell density at the time of diagnosis (p = 0.020, p = 0.005, respectively). The differences in central corneal thickness and endothelial cell density between the two eyes in one patient were significantly smaller in patients with gene mutation (p = 0.043, p = 0.022, respectively). Over a 5-year follow-up period, 60.0% of eyes in patients with gene mutation and 19.2% of eyes in patients without gene mutation underwent corneal transplantation, a significant difference between the two groups (p = 0.014). Conclusions: By testing for COL8A2 gene mutation, early binocular disease progression and the possible need for corneal transplantation in the future can be predicted among patients diagnosed with Fuchs dystrophy.

• Journal of Veterinary Science
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• v.24 no.5
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• pp.66.1-66.7
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• 2023

Two dogs presented with bilateral pattern-forming corneal opacity. Treatment with topical immunosuppressants was initiated after a complete ophthalmic examination. The response to treatment was assessed by analyzing serial images using slit-lamp biomicroscopy and spectral domain optical coherence tomography (SD-OCT). Both dogs responded to topical immunosuppressants; however, the lesions recurred once the treatment was abated or withdrawn. The most effective immunosuppressant in both dogs was 0.03% tacrolimus ointment. Early and continuous treatment with topical immunosuppressants may be necessary to improve corneal clarity and prevent scarring. SD-OCT could provide useful structural information regarding presumed immune-mediated keratitis and aid in monitoring treatment response.

• Proceeding of EDISON Challenge
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• 2015.03a
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• pp.70-75
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• 2015

Fasciclin 1 (FAS1) is an extracellular protein whose aggregation in cornea leads to visual impairment. While a number of FAS1 mutants have been studied that exhibit enhanced/decreased aggregation propensity, no structural information has been provided so far that is associated with distinct aggregation potential. In this study, we have investigated the structural and thermodynamic characteristics of the wild-type FAS1 and its two mutants, R555Q and R555W, by using molecular dynamics simulations and three-dimensional reference interaction site model (3D-RISM) theory. We find that the hydrophobic solvent accessible surface area increases due to hydrophobic core repacking in the C-terminus caused by the mutation. We also find that the solvation free energy of the mutants increases due to the enhanced non-native H-bonding. These structural and thermodynamic changes upon mutation contribute to understand the aggregation of these mutants.

• 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.

• Annals of Clinical Neurophysiology
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• v.24 no.2
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• pp.90-92
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• 2022

AGel amyloidosis is an autosomal dominantly inherited disease caused by a GSN mutation, and affected patients typically present with the clinical triad of corneal lattice dystrophy, progressive cranial neuropathy, and cutis laxa. We report a Korean family with AGel amyloidosis with predominant manifestations of facial and bulbar muscle weakness. Whole-exome sequencing revealed a common missense mutation (p.Asp214Tyr) in GSN. This case strongly suggests that AGel amyloidosis should be considered when a patient presents with progressive facial and bulbar palsies.

• Clinical and Experimental Reproductive Medicine
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• v.37 no.2
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• pp.89-98
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• 2010

Sex and its tropic hormones influence the lacrimal system, corneal anatomy and disease, aqueous humor dynamics and glaucoma, crystalline lens and cataract, and retinal disease. Dry eye occurs especially frequently during pregnancy, oral contraceptive use, and after menopause, during which androgen levels decrease. Androgen control development, differentiation, and lipid production of sebaceous glands throughout the body, and androgen deficiency also leads to meibomian gland dysfunction and evaporative dry eye. On the other hand, estrogen causes a reduction in size, activity, and lipid production of sebaceous glands. Sex and its tropic hormones also influence the corneal anatomy and disease, and corneal thickening occurred on the second day of the menstrual cycle and around the time of ovulation and appeared to be related to estrogen levels. Fuchs' dystrophy is more commonly seen in postmenopausal women than men and may be linked to hormonal changes that occur with aging. In addition, overexpression of estrogen and progesterone receptors in the conjunctiva of vernal keratoconjunctivitis patients. Serum progesterone levels also may be associated with intraocular pressure especially in pregnant women, and for the women. For women with cataracts, hormone levels were typical of menopause, and there was a significant negative correlation between estradiol and follicular stimulating hormone levels. In addition, serum testosterone levels are associated with the development of diabetic retinopathy. Although the role of sex hormones on the eye is largely unknown, and the results should be interpreted with caution until replicated, the functions of sex hormones in ocular disease remains to be investigated, because they may be involved in structure and function of the ocular components, which are important in the pathogenesis of ocular disease.

• 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.