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First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy.

Mazzotta C, Traversi C, Raiskup F, Rizzo CL, Renieri A - Case Rep Ophthalmol (2014)

Bottom Line: Corneal tomography confirmed the presence of a stage II KC in both eyes.The genetic analysis resulted negative for TGFBI mutations and positive for a heterozygous mutation in exon 7 of the gene ZEB1.This is the first case reported in the literature in which KC, EBMCD and FECD are present in the same patient and associated with ZEB1 gene mutation.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, University of Siena, Siena, Italy.

ABSTRACT

Purpose: To report the observation of a triple corneal dystrophy association consisting of keratoconus (KC), epithelial basement membrane corneal dystrophy (EBMCD) and Fuchs' endothelial corneal dystrophy (FECD).

Methods: A 55-year-old male patient was referred to our cornea service for blurred vision and recurrent foreign body sensation. He reported bilateral recurrent corneal erosions with diurnal visual fluctuations. He underwent corneal biomicroscopy, Scheimpflug tomography, in vivo HRT confocal laser scanning microscopy and genetic testing for TGFBI and ZEB1 mutations using direct DNA sequencing.

Results: Biomicroscopic examination revealed the presence of subepithelial central and paracentral corneal opacities. The endothelium showed a bilateral flecked appearance, and the posterior corneal curvature suggested a possible concomitant ectatic disorder. Corneal tomography confirmed the presence of a stage II KC in both eyes. In vivo confocal laser scanning microscopy revealed a concomitant bilateral EBMCD with hyperreflective deposits in basal epithelial cells, subbasal Bowman's layer microfolds and ridges with truncated subbasal nerves as pseudodendritic elements. Stromal analysis revealed honeycomb edematous areas, and the endothelium showed a strawberry surface configuration typical of FECD. The genetic analysis resulted negative for TGFBI mutations and positive for a heterozygous mutation in exon 7 of the gene ZEB1.

Conclusion: This is the first case reported in the literature in which KC, EBMCD and FECD are present in the same patient and associated with ZEB1 gene mutation. The triple association was previously established by means of morphological analysis of the cornea using corneal Scheimpflug tomography and in vivo HRT II confocal laser scanning microscopy.

No MeSH data available.


Related in: MedlinePlus

a Slit lamp microscopy shows an oval scar (black arrow), multiple linear opacities (white arrows) and the Fleischer ring (light blue arrows). b Retroillumination technique clearly shows diffuse guttae and, on the left, the apex of KC.
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Figure 1: a Slit lamp microscopy shows an oval scar (black arrow), multiple linear opacities (white arrows) and the Fleischer ring (light blue arrows). b Retroillumination technique clearly shows diffuse guttae and, on the left, the apex of KC.

Mentions: A 55-year-old male patient was referred to our cornea service for blurred vision and recurrent foreign body sensation. The patient reported bilateral recurrent corneal erosions with bilateral visual fluctuations. Corrected distance visual acuity was 20/40 (–2 cylinder axis 70°) and 20/60 (+0.50 sphere = −3 cylinder axis 70° int.) in the right and left eye, respectively. Biomicroscopic examination revealed the presence of subepithelial central and paracentral corneal opacities. The endothelium was altered with a bilateral flecked appearance, and the posterior corneal curvature suggested a possible ectatic disorder (fig. 1).


First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy.

Mazzotta C, Traversi C, Raiskup F, Rizzo CL, Renieri A - Case Rep Ophthalmol (2014)

a Slit lamp microscopy shows an oval scar (black arrow), multiple linear opacities (white arrows) and the Fleischer ring (light blue arrows). b Retroillumination technique clearly shows diffuse guttae and, on the left, the apex of KC.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4209271&req=5

Figure 1: a Slit lamp microscopy shows an oval scar (black arrow), multiple linear opacities (white arrows) and the Fleischer ring (light blue arrows). b Retroillumination technique clearly shows diffuse guttae and, on the left, the apex of KC.
Mentions: A 55-year-old male patient was referred to our cornea service for blurred vision and recurrent foreign body sensation. The patient reported bilateral recurrent corneal erosions with bilateral visual fluctuations. Corrected distance visual acuity was 20/40 (–2 cylinder axis 70°) and 20/60 (+0.50 sphere = −3 cylinder axis 70° int.) in the right and left eye, respectively. Biomicroscopic examination revealed the presence of subepithelial central and paracentral corneal opacities. The endothelium was altered with a bilateral flecked appearance, and the posterior corneal curvature suggested a possible ectatic disorder (fig. 1).

Bottom Line: Corneal tomography confirmed the presence of a stage II KC in both eyes.The genetic analysis resulted negative for TGFBI mutations and positive for a heterozygous mutation in exon 7 of the gene ZEB1.This is the first case reported in the literature in which KC, EBMCD and FECD are present in the same patient and associated with ZEB1 gene mutation.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, University of Siena, Siena, Italy.

ABSTRACT

Purpose: To report the observation of a triple corneal dystrophy association consisting of keratoconus (KC), epithelial basement membrane corneal dystrophy (EBMCD) and Fuchs' endothelial corneal dystrophy (FECD).

Methods: A 55-year-old male patient was referred to our cornea service for blurred vision and recurrent foreign body sensation. He reported bilateral recurrent corneal erosions with diurnal visual fluctuations. He underwent corneal biomicroscopy, Scheimpflug tomography, in vivo HRT confocal laser scanning microscopy and genetic testing for TGFBI and ZEB1 mutations using direct DNA sequencing.

Results: Biomicroscopic examination revealed the presence of subepithelial central and paracentral corneal opacities. The endothelium showed a bilateral flecked appearance, and the posterior corneal curvature suggested a possible concomitant ectatic disorder. Corneal tomography confirmed the presence of a stage II KC in both eyes. In vivo confocal laser scanning microscopy revealed a concomitant bilateral EBMCD with hyperreflective deposits in basal epithelial cells, subbasal Bowman's layer microfolds and ridges with truncated subbasal nerves as pseudodendritic elements. Stromal analysis revealed honeycomb edematous areas, and the endothelium showed a strawberry surface configuration typical of FECD. The genetic analysis resulted negative for TGFBI mutations and positive for a heterozygous mutation in exon 7 of the gene ZEB1.

Conclusion: This is the first case reported in the literature in which KC, EBMCD and FECD are present in the same patient and associated with ZEB1 gene mutation. The triple association was previously established by means of morphological analysis of the cornea using corneal Scheimpflug tomography and in vivo HRT II confocal laser scanning microscopy.

No MeSH data available.


Related in: MedlinePlus