Publications by authors named "Chifune Kai"

Objectives: To assess the quality of life in Japanese patients with Fuchs endothelial corneal dystrophy (FECD) using The National Eye Institute Visual Function Questionnaire.

Methods: Here, 34 patients with FECD (FECD group) and 13 healthy individuals (control group) completed the National Eye Institute Visual Function Questionnaire Japanese version by interview format. The association between dominant eye corrected distance visual acuity and composite score (component 11) or subscales in the FECD group was evaluated using Spearman rank correlation coefficient.

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  • The study investigates the corneal characteristics of Japanese patients with myotonic dystrophy type 1 (DM1), focusing on those diagnosed with clinical neuromuscular symptoms and specific genetic markers.
  • Researchers compared the corneal health of 10 DM1 patients to 37 healthy participants using advanced eye examination techniques.
  • Findings indicate that DM1 patients exhibited mild corneal issues similar to Fuchs endothelial corneal dystrophy, with a significantly higher average endothelial cell density compared to the control group.
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  • The study aimed to explore how visual function is related to various factors like corneal scatter, higher-order aberrations (HOAs), and severity grading in patients with Fuchs endothelial corneal dystrophy (FECD).
  • It involved an analysis of 49 eyes from patients with FECD and 10 healthy eyes, assessing visual acuity and contrast sensitivity while examining several explanatory variables, including corneal thickness and HOAs.
  • Findings revealed significant correlations between visual function and factors like modified Krachmer grade and corneal densitometry, identifying specific threshold levels that correlate with decreased visual function in FECD patients.
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  • The study aimed to explore the relationship between cytosine-thymine-guanine trinucleotide repeat (TNR) expansion in TCF4 and clinical features like corneal densitometry in patients with Fuchs endothelial corneal dystrophy.
  • A total of 150 eyes from 75 Japanese patients were analyzed using advanced genetic techniques and imaging methods to assess their corneal characteristics.
  • The results showed no significant differences in clinical traits between patients with significant TNR expansion and those without, including metrics like corneal thickness and morphology.
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  • A new mutation was discovered in a Japanese patient with gelatinous drop-like corneal dystrophy (GDLD) affecting the specific gene.
  • This mutation is a homozygous deletion (c.798delG), potentially causing a frameshift that alters the protein sequence significantly.
  • The mutated gene loses its function, which is crucial for transporting claudin proteins (CLDN 1 and 7) to the plasma membrane.
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Purpose: Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive corneal dystrophy that causes severe vision loss. Because of its poor prognosis, there is a demand for novel treatments for GDLD. Here, we establish a new in vitro disease model of GDLD based on immortalized human corneal epithelial (HCE-T) cells.

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