Shu-Ming Chai

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Corneal dystrophies are a group of inherited disorders localized to various layers of the cornea that affect corneal transparency and visual acuity. The deposition of insoluble protein materials in the form of extracellular deposits or intracellular cysts is pathognomic. Mutations in TGFBI are responsible for superficial and stromal corneal dystrophies. The(More)
BACKGROUND To describe mutations in the transforming growth factor-beta induced (TGFBI) gene in Asian patients with Bowman's membrane as well as stromal corneal dystrophies, and to elucidate their structural implications, using model peptides. METHODS Twenty-two unrelated Asian families were examined clinically including visual acuity testing and ocular(More)
The authors present a case of Fanconi anemia with bilateral rapid onset retinal neovascularization and vitreous hemorrhage. The patient developed branch retinal vein occlusion in the left eye complicated by vitreous hemorrhage and was treated conservatively with intravitreal hyaluronidase injection. He declined vitrectomy and his visual acuity deteriorated(More)
TGFBI-associated corneal dystrophies are characterized by accumulation of insoluble deposits of the mutant protein transforming growth factor β-induced protein (TGFBIp) in the cornea. Depending on the nature of mutation, the lesions appear as granular (non-amyloid) or lattice lines (amyloid) in the Bowman's layer or in the stroma. This review article(More)
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