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1.
Indian J Ophthalmol ; 2022 Jan; 70(1): 85-89
Artículo | IMSEAR | ID: sea-224118

RESUMEN

Purpose: To identify a clinical and genetic form of a large Chinese family with an autosomal?dominant lattice corneal dystrophy type I (LCD I). Methods: The patients’ eyes were examined on the basis of slit?lamp microscopy, and other clinical records were also collected. Genomic DNA was extracted from peripheral leukocytes of the affected patients and their unaffected family members. Each previous reported mutation of the transforming growth factor ??induced gene (TGFBI) gene was amplified by touch?down polymerase chain reaction and directly sequenced to verify the disease?causing mutation. Results: Typical clinical features of LCD I were found by slit?lamp photography in these affected Chinese pedigrees. A heterozygous single base?pair transition from C to T (c.418 C > T), leading to amino acid substitution Arg124Cys (R124C) in the encoded TGFBI protein, was detected in all of the eighteen affected patients. The same mutation was not found in unaffected family members. Conclusion: The R124C mutation hot spot, which was relatively rare in China, was responsible for LCD I in the large family. Molecular genetic analysis of TGFBI gene can offer an accurate diagnosis of patients with lattice corneal dystrophies in the clinical treatment.

2.
International Eye Science ; (12): 2019-2023, 2017.
Artículo en Chino | WPRIM | ID: wpr-669256

RESUMEN

AIM:To verify the safety application of MIL60 in the treatment of corneal neovascularization both in vivo and in vitro.METHODS:We observed the biological characteristics of human corneal epithelial cells.The cell proliferation was analyzed using CCK-8 assay,which also used to test the toxicity of MIL60 and the solvent on cultured human corneal epithelial (HCE).FACs was used to analyze the apoptosis of HCE after treated with MIL60.Also we evaluated the effect of subconjunctival injection of MIL60 on corneal epithelial healing model in normal rat and rats with epithelium defect through slit lamp-microscopy,Draize scores and histopathology way.RESULTS:The proliferation speed of HCE in three groups was the same.MIL60 did no harm on the proliferation of HCE and the apoptosis of HCE,and has no effect on corneal epithelial healing and other parts of the ocular in rats without inflammation cells infiltration.CONCLUSION:When given subconjunctival injection,Mil60 does no harm to the proliferation and apoptosis of HCE,and is safe with ocular application.

3.
Indian J Ophthalmol ; 2013 Mar; 61(3): 133-135
Artículo en Inglés | IMSEAR | ID: sea-147886
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