Articles with "r124l mutation" as a keyword



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Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study

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Published in 2019 at "BMC Ophthalmology"

DOI: 10.1186/s12886-019-1167-1

Abstract: BackgroundTo investigate the efficacy and safety of repeated phototherapeutic keratectomies (PTKs) during long-term treatment for corneal dystrophy (CD) in a Chinese pedigree carrying the R124L mutation in TGFBI.MethodsThis was a retrospective review of 20-year medical… read more here.

Keywords: ptk; corneal dystrophy; r124l mutation; chinese pedigree ... See more keywords
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The observation of anterior segment in children with an R124L mutation corneal dystrophy by anterior segment optical coherence tomography and in vivo confocal microscopy

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Published in 2022 at "Frontiers in Medicine"

DOI: 10.3389/fmed.2022.991204

Abstract: Purpose To evaluate the anterior segment in children with an R124L mutation corneal dystrophy (CD) using anterior segment optical coherence tomography (AS-OCT) and in vivo confocal microscopy (IVCM). Methods We investigated a family with prevalent… read more here.

Keywords: r124l mutation; corneal; anterior segment; microscopy ... See more keywords