1.Clinical Manifestations of Avellino Corneal Dystrophy Diagnosed by Non-invasive Genetic Test.
Jung Wan KIM ; Hyo Myoung KIM ; Jong Suk SONG
Journal of the Korean Ophthalmological Society 2008;49(9):1431-1436
PURPOSE: To introduce a new genetic method for the diagnosis of Avellino corneal dystrophy (ACD), which is non-invasive and can be easily performed on an outpatient basis, and to evaluate the relationship between the degree of corneal opacity and age or sex. METHODS: A genetic study was performed on 11 patients who had a specific corneal opacity by slit-lamp examination and on four normal patients by using a specific adhesive tape to obtain epidermal keratinocytes. Corneal dystrophy was diagnosed according to the genetic study. RESULTS: All 11 patients were confirmed as having heterozygous ACD. Heterozygous ACD patients were classified into five stages: trace, mild, moderate, severe, or very severe, based on slit-lamp photography status. Corneal stages had no relationship with sex (p=0.982), but the severity of ACD increased with age (p=0.005). CONCLUSIONS: A non-invasive sticker-type genetic study kit, the "U-gene test" is a good method to diagnose corneal dystrophy genetically. Avellino corneal dystrophy becomes more severe over time but has no relationship with sex.
Adhesives
;
Corneal Dystrophies, Hereditary
;
Corneal Opacity
;
Humans
;
Keratinocytes
;
Outpatients
;
Photography
2.Confocal Microscopic Findings in Posterior Polymorphous Corneal Dystrophy.
Beom Seok CHOI ; Young Min PARK ; Jong Soo LEE
Journal of the Korean Ophthalmological Society 2013;54(11):1783-1787
PURPOSE: To analyze the features of corneal tissue in patients with posterior polymorphous corneal dystrophy (PPMD) using in vivo confocal microscopy (IVCM). CASE SUMMARY: Three patients with clinically diagnosed PPMD were examined using IVCM. Cross-sectioned corneal images of the corneal epithelium, Bowman's layer, stromal layer, Descemet's membrane, and endothelium were evaluated. IVCM demonstrated a depressed crater-like lesion, hyper-dense streak-like lesion, and surface irregularity of the corneal endothelium. Endothelial hypo-reflective vesicular and band-like lesions were also found. Pleomorphism and polymegathism were present with guttae and hyper-reflective endothelial nuclei. CONCLUSIONS: IVCM is a non-invasive and effective tool to diagnose PPMD.
Corneal Dystrophies, Hereditary
;
Descemet Membrane
;
Endothelium
;
Endothelium, Corneal
;
Epithelium, Corneal
;
Humans
;
Microscopy, Confocal
3.Two Cases of Hereditary Crystalline Corneal Dystrophy of Schnyder.
Hong Bok KIM ; Young Tae KONG ; Young Jae HONG
Journal of the Korean Ophthalmological Society 1973;14(4):387-391
The authors present a family with two members affected by hereditary corneal dystrophy of Schnyder. A 45-year-old mother and her 15-year-old son visited our hospital with bilateral opacities which affected the center of the cornea symmetrically. They stated that they had found the abnormalities about one month previously, and had have no visual disturbances or inflammatory symptoms. The blood cholesterol of the two patients was essentially in the normal range, and no other systemic abnormalities were found. This is the first family with hereditary crystalline corneal dystrophy of Schnyder to be reported in Korea.
Adolescent
;
Cholesterol
;
Cornea
;
Corneal Dystrophies, Hereditary
;
Crystallins*
;
Humans
;
Korea
;
Middle Aged
;
Mothers
;
Reference Values
4.N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy.
Woo Suk CHUNG ; Hye Kyoung HONG ; Tae Im KIM ; Eun Ji KIM ; Eung Kweon KIM
Journal of the Korean Ophthalmological Society 2010;51(3):440-446
PURPOSE: Schnyder crystalline corneal dystrophy (SCCD) is an autosomal dominant disease characterized by progressive central corneal opacification and premature development of peripheral arcus in the cornea. This disease results from a point mutation of UBIAD1 in chromosome 1p34-36. Until now, 15 different mutations of UBIAD1 gene on chromosome 1p34-36 have been reported for Schnyder crystalline corneal dystrophy. More point mutations are expected to be added to the list in the future. Schnyder crystalline corneal dystrophy is a rare disease, with only three reported cases in Korea, although there has been no report of a genetically confirmed case of the disease. CASE SUMMARY: We encountered six patients with an N102S mutation of UBIAD1, who are from a family of two generation with 12 family members. Genetic confirmation for Schnyder crystalline corneal dystrophy was performed on these patients. This was the first report of a genetic confirmation of Schnyder crystalline corneal dystrophy in Korea. We will discuss our cases along with a review of the related literature.
Cornea
;
Corneal Dystrophies, Hereditary
;
Crystallins
;
Humans
;
Korea
;
Point Mutation
;
Rare Diseases
5.R555W mutation of TGFbetaI related to granular corneal dystrophy in Chinese patients.
Lei HU ; Fei XU ; Wei-jian MA ; Hua ZHANG ; Rui-fang SUI
Chinese Medical Journal 2009;122(22):2691-2694
BACKGROUNDMutations in the transforming growth factor beta I (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies. We investigated the role of this gene in a Chinese family affected by granular corneal dystrophy (GCD).
METHODSFamily history and phenotypic data were recorded. The diagnosis of GCD was made on the basis of clinical evaluation. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intron-exon boundary sequences of TGFbetaI were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing.
RESULTSA heterozygous C to T transition at nucleotide c.1663 (CGG to TGG R555W) of TGFbetaI gene was present in two affected members but was absent in the rest of the family members.
CONCLUSIONA recurrent pathogenic R555W of TGFbetaI gene mutation is identified, which appears to be the predominant mutations causing GCD in different populations.
Adult ; Corneal Dystrophies, Hereditary ; genetics ; Female ; Humans ; Middle Aged ; Mutation ; Transforming Growth Factor beta1 ; genetics
6.The Effects of the Cyanoacrylate Tissue Adhesive Mono-therapy for Corneal Perforation.
Jae Woong KOH ; Hyung Hun CHO ; Sung Won YANG ; Jun HER
Journal of the Korean Ophthalmological Society 2006;47(9):1381-1386
PURPOSE: To report cases of corneal perforation among corneas treated with cyanoacrylate tissue adhesive. METHODS: We performed cyanoacrylate tissue adhesive application on 1 case of corneal perforation due to fungal keratitis, one case of corneal perforation due to neurotrophic keratitis, one case of corneal fistula due to foreign body and one case of corneal perforation due to corneal stromal dystrophy. After cyanoacrylate tissue adhesive removal, amniotic membrane transplantation was conducted in two cases, and keratoplaty was performed in another two cases. RESULTS: Postoperative follow-up period was 12 months on average. In all four cases, ocular integrity was successfully restored. There was no sign of recurrence, infection or inflammation. CONCLUSIONS: Cyanoacrylate tissue adhesive monotherpy can restore ocular integrity successfully in various type of corneal perforation and After cyanoacrylate tissue adhesive removal, amniotic membrane transplantation and keratoplaty can be performed additionally.
Amnion
;
Cornea
;
Corneal Dystrophies, Hereditary
;
Corneal Perforation*
;
Cyanoacrylates*
;
Fistula
;
Follow-Up Studies
;
Foreign Bodies
;
Inflammation
;
Keratitis
;
Recurrence
;
Tissue Adhesives*
7.The Number of Cases, Cause and Treatment of Avellino Corneal Dystrophy Exacerbated After LASIK.
Jeong Ho YI ; Byoung Jin HA ; Sang Woo KIM ; Tae im KIM ; Eung Kweon KIM
Journal of the Korean Ophthalmological Society 2008;49(9):1415-1424
PURPOSE: To present a case report of fungal keratitis related to prolonged overnight use of orthokeratology contact lenses. METHODS: A 13 year-old girl presented with a corneal ulcer in her left eye refractory to antibacterial medication. She had a history of wearing orthokeratology contact lenses overnight for seven months. RESULTS: The organism Aspergillus was isolated by corneal scraping, the contact lens itself, and from the storage case. The patient was treated with topical fluconazole and Natamycin pimaricin in addition to oral itraconazole, resulting in a resolution of the ocular lesion. CONCLUSIONS: The risk of fungal infection as a potential complication of the use of overnight orthkeratology contact lenses should be considered when using these lenses.
Aspergillus
;
Contact Lenses
;
Corneal Dystrophies, Hereditary
;
Corneal Ulcer
;
Eye
;
Fluconazole
;
Humans
;
Itraconazole
;
Keratitis
;
Keratomileusis, Laser In Situ
;
Natamycin
8.Lattice Corneal Dystrophy, Gelsolin Type: The First Case Report in Korea.
Tae Hyup KIM ; Ji Hyun BAE ; Dong Hui LIM ; Eui Sang CHUNG ; Tae Young CHUNG
Journal of the Korean Ophthalmological Society 2013;54(4):667-670
PURPOSE: To report the first case of lattice corneal dystrophy, gelsolin type in Korea. CASE SUMMARY: A 61-year-old man visited our clinic with severe dry eye symptom in both eyes. Clinical examination revealed in both eyes a visual acuity of 0.7 without correction and intraocular pressure of 18 mm Hg. On slit-lamp examination, both corneas had scattered lattice lines at various depths within the stroma with punctate epithelial erosions. The patient had characteristic features of Meretoja syndrome, including cranial neuropathy characterized by dermatochalasis and facial weakness, and was positive for the gelsolin mutation according to DNA analysis. This is the first description of a patient with lattice corneal dystrophy, gelsolin type in Korea. CONCLUSIONS: This is the first description of a patient with lattice corneal dystrophy, gelsolin type in Korea and demonstrates the importance of recognizing the systemic and ophthalmic features for appropriate management of the condition.
Amyloidosis
;
Cornea
;
Corneal Dystrophies, Hereditary
;
Cranial Nerve Diseases
;
DNA
;
Eye
;
Gelsolin
;
Humans
;
Intraocular Pressure
;
Korea
;
Visual Acuity
9.A Novel Decorin Gene Mutation in Congenital Hereditary Stromal Dystrophy: A Korean Family.
Jung Hye LEE ; Chang Seok KI ; Eui Sang CHUNG ; Tae Young CHUNG
Korean Journal of Ophthalmology 2012;26(4):301-305
A 43-year-old man developed decreased vision in the right eye that had persisted for seven years. Under slit lamp examination, corneal clouding was noted with normal endothelium and ocular structure. From the clinical evidence, we suspected that the patient had congenital hereditary stromal dystrophy (CHSD). He and his family underwent a genetic analysis. Penetrating keratoplasty was conducted, and the corneal button was investigated for histopathologic confirmation via both light and electron microscopy. The histopathologic results revealed mildly loosened stromal structures, which exhibited an almost normal arrangement and differed slightly from the previous findings of CHSD cases. With regard to the genetic aspects, the patient and his mother harbored a novel point mutation of the decorin gene. This genetic mutation is also distinct from previously described deletion mutations of the decorin gene. This case involved delayed penetration of mild clinical symptoms with the histological feature of a loosened fiber arrangement in the corneal stroma. We concluded that this condition was a mild form of CHSD. However, from another perspective, this case could be considered as "decorin gene-associated corneal dystrophy," which is distinct from CHSD. Further evaluation will be required for appropriate clinical, histopathologic and genetic approaches for such cases.
Adult
;
Corneal Dystrophies, Hereditary/diagnosis/*genetics
;
Decorin/*genetics
;
Humans
;
Male
;
Microscopy, Electron
;
Pedigree
;
*Point Mutation
;
Republic of Korea
10.Complete remission induced by tacrolimus and low-dose prednisolone in adult minimal change nephrotic syndrome: A pilot study.
Yong Chul KIM ; Tae Woo LEE ; Hajeong LEE ; Ho Suk KOO ; Kook Hwan OH ; Kwon Wook JOO ; Suhnggwon KIM ; Ho Jun CHIN
Kidney Research and Clinical Practice 2012;31(2):112-117
BACKGROUND: Few clinical trials have examined the replacement of steroids with other immunosuppressive drugs as a primary treatment modality for minimal change disease (MCD) in adults. We studied the efficacy of tacrolimus to induce complete remission (CR) in adults with MCD. METHODS: We enrolled 14 adults with MCD and nephrotic-range proteinuria. All patients were treated with oral tacrolimus 0.05mg/kg twice daily and prednisolone 0.5mg/kg/day. CR was defined as a urine protein to creatinine ratio of<0.2g protein/g creatinine (g/g cr). The primary outcome was cumulative percentage of CR during 16 weeks. RESULTS: The mean urine protein to creatinine ratio at enrollment was 10.9g/g cr (range: 4.2-18.1g/g cr). The trough tacrolimus level was maintained at 5.99+/-2.63ng/mL. CR was achieved by 13/14 (92.8%) patients within 8 weeks. The cumulative CR rate was 7.7% (1/14), 64.2% (9/14), 71.3% (10/14), and 92.9% (13/14) at 1 week, 2 weeks, 4 weeks, and 8 weeks, respectively. The one remaining patient achieved CR at 20 weeks after treatment, who was followed up for a further 4 weeks. The mean time to achieve CR in the 14 patients was 4.64+/-5.11 (1-20) weeks. Three cases suffered adverse events of abdominal pain, diarrhea, or new-onset diabetes mellitus. CONCLUSION: Tacrolimus and low-dose prednisolone therapy induced CR rapidly (71.3% by 4 weeks and 100% by 20 weeks) and effectively in adult patients with MCD.
Abdominal Pain
;
Adult
;
Corneal Dystrophies, Hereditary
;
Creatinine
;
Diarrhea
;
Humans
;
Nephrosis, Lipoid
;
Pilot Projects
;
Prednisolone
;
Proteinuria
;
Steroids
;
Tacrolimus