A Novel Pathogenic Variant in the KRT3 Gene in a Family with Meesmann Corneal Dystrophy DOI Open Access
Alix De Faria,

Víctor Charoenrook,

Raquel Larena

и другие.

Journal of Clinical Medicine, Год журнала: 2025, Номер 14(3), С. 851 - 851

Опубликована: Янв. 28, 2025

Background/Objectives: to report a novel KRT3 Meesmann corneal dystrophy (MECD) mutation and its clinical findings in Spanish family, thus completing the international database. Case series study. Methods: Two generations of three family members were studied. The ophthalmologic evaluation was made including best-corrected visual acuity (BCVA), biomicroscopy with without fluorescein, fundoscopy, Schirmer test I, non-invasive break-up time (NiBUT), esthesiometry. In vivo confocal microscopy (IVCM), anterior segment optical coherence tomography (AS-OCT) an epithelial map, genetic analysis also performed. Results: A heterozygous gene c.1527G>T (p. Glu509Asp) identified. Biomicroscopy revealed bilateral multiple intraepithelial cysts. IVCM showed numerous relatively small microcysts (12–32 µm), hyperreflective materials, subepithelial nerve Bowman’s layer alterations. AS-OCT scan diffuse hyperreflectivity map displayed thickening epithelium interpalpebral zone (proband: 52–68 µm father’s proband: 55–71 µm) slightly thinned cornea. Conclusions: We identified new gene–c.1527G>T MECD. comprehensive characterization signs, using different techniques, especially could be useful diagnose monitor changes by quantitative measures. Epithelial provide better understanding MECD differential behavior progression changes. Larger studies will necessary understand these specific patterns clinically evaluate therapies.

Язык: Английский

A Novel Pathogenic Variant in the KRT3 Gene in a Family with Meesmann Corneal Dystrophy DOI Open Access
Alix De Faria,

Víctor Charoenrook,

Raquel Larena

и другие.

Journal of Clinical Medicine, Год журнала: 2025, Номер 14(3), С. 851 - 851

Опубликована: Янв. 28, 2025

Background/Objectives: to report a novel KRT3 Meesmann corneal dystrophy (MECD) mutation and its clinical findings in Spanish family, thus completing the international database. Case series study. Methods: Two generations of three family members were studied. The ophthalmologic evaluation was made including best-corrected visual acuity (BCVA), biomicroscopy with without fluorescein, fundoscopy, Schirmer test I, non-invasive break-up time (NiBUT), esthesiometry. In vivo confocal microscopy (IVCM), anterior segment optical coherence tomography (AS-OCT) an epithelial map, genetic analysis also performed. Results: A heterozygous gene c.1527G>T (p. Glu509Asp) identified. Biomicroscopy revealed bilateral multiple intraepithelial cysts. IVCM showed numerous relatively small microcysts (12–32 µm), hyperreflective materials, subepithelial nerve Bowman’s layer alterations. AS-OCT scan diffuse hyperreflectivity map displayed thickening epithelium interpalpebral zone (proband: 52–68 µm father’s proband: 55–71 µm) slightly thinned cornea. Conclusions: We identified new gene–c.1527G>T MECD. comprehensive characterization signs, using different techniques, especially could be useful diagnose monitor changes by quantitative measures. Epithelial provide better understanding MECD differential behavior progression changes. Larger studies will necessary understand these specific patterns clinically evaluate therapies.

Язык: Английский

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