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

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

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

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

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

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*

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

PURPOSE: Urinary angiotensinogen (AGT) has been reported as an important marker reflecting the activity of intrarenal renin-angiotensin system (RAS) in chronic glomerulonephritis patients. We investigated urinary AGT excretion and intrarenal AGT expression in patients with minimal change disease (MCD). METHODS: In 20 patients with biopsy-proven MCD, urinary and plasma AGT was measured using a sandwich ELISA and intrarenal AGT expression was measured with immunohistochemistry. Urine samples from normal healthy volunteers and patients with biopsy-proven thin basement membrane disease (TBM) were used as control groups. RESULTS: MCD patients showed a wide range of natural logarithm of the urinary AGT/creatinine [ln (urinary AGT/Cr)] and the ln (urinary AGT/Cr) was higher in MCD patients compared with normal controls and TBM controls (normal control vs. TBM vs. MCD, 1.2+/-0.25 vs. 0.9+/-0.34 vs. 3.2+/-0.40). Intrarenal AGT expression was diverse in MCD patients (intrarenal AGT, arbitrary unit, 27.39-78.52 in TBM, 0.00-145.80 in MCD). Ln (urinary AGT/Cr) did not show a direct correlation with intrarenal AGT expression, plasma AGT, or urinary protein/creatinine ratio. CONCLUSION: Urinary AGT excretion and intrarenal AGT expression are enhanced in some MCD patients, suggesting that intrarenal RAS is activated in these patients.
Angiotensinogen ; Basement Membrane ; Corneal Dystrophies, Hereditary ; Enzyme-Linked Immunosorbent Assay ; Glomerulonephritis ; Humans ; Immunohistochemistry ; Nephrosis, Lipoid ; Plasma ; Proteinuria ; Renin-Angiotensin System

OBJECTIVETo investigate the clinical characteristics and the corneal morphological abnormalities in Fleck corneal dystrophy.

METHODSEighteen eyes with Fleck corneal dystrophy of 9 patients from two unrelated families were examined by slit-lamp biomicroscopy, Cochet-Bonnet esthesiometer and in vivo confocal microscopy. The corneal cells, nerves and stromal deposits were analyzed quantitatively with NAVIS software.

RESULTSlit-lamp biomicroscopy of the Fleck corneal dystrophy revealed that bilateral small grey-white fleck-like or wreath-like opacities were scattered in all layer of the corneal stroma from the center to the periphery, the intervening stroma between the lesions was clear. In vivo confocal microscopy identified that the opacities appeared as doughnut-like or nephroid-like deposits approximately 70.6 μm × 110.3 μm in size, (1.6 ± 0.4)/frame in density and involved about (438.4 ± 22.0) μm of the corneal stroma, with hyper reflective dot-like intracellular particles,measuring 2 to 18 μm in diameter. In two eyes of 1 patient associated with decreased corneal sensation, confocal images showed that abnormal hyper reflective deposits involved the Bowman's layer and the branch and density of the subbasal nerve was reduced. The other eyes with normal corneal sensation appeared normal in the morphology and the density of the corneal nerves.

CONCLUSIONFleck corneal dystrophy has typical clinical characteristics. In vivo confocal microscopy allows to study the morphological changes of the cornea at cellular level, which is valuable for the clinical diagnosis and evaluation of the corneal dystrophy. Decreased corneal sensitivity in Fleck corneal dystrophy is probably caused by corneal stromal deposits involved in the Bowman's layer.

Adolescent ; Adult ; Aged ; Cornea ; pathology ; Corneal Dystrophies, Hereditary ; pathology ; Female ; Humans ; Male ; Microscopy, Confocal ; Middle Aged ; Young Adult

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