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Gelatinous drop-like corneal dystrophy with a novel mutation of TACSTD2 manifested in combination with spheroidal degeneration in a Chinese patient.

Zhang B, Yao YF - Mol. Vis. (2010)

Bottom Line: Initially superficial keratectomy was performed for both eyes.Sequencing of TACSTD2 from the patient revealed a novel homozygous missense mutation c.354G>C, leading to amino acid substitution Q118H in the patient.Molecular analysis demonstrated a novel mutation in TACSTD2, which may expand the spectrum of mutations in TACSTD2.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology and Sir Run Run Shaw Institute of Clinical Medicine, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Zhejiang, PR China.

ABSTRACT

Purpose: To report the clinicopathological findings of a Chinese patient with an unusual phenotype of gelatinous drop-like corneal dystrophy (GDLD) combined with spheroidal degeneration and to detect molecular defect in the tumor-associated calcium signal transducer 2 (TACSTD2) gene.

Methods: Extensive physical and ophthalmologic examination of the patient was performed. Initially superficial keratectomy was performed for both eyes. Due to recurrence of the corneal opacity, penetrating keratoplasty for the right eye and deep lamellar keratoplasty for the left eye were performed. The obtained corneal tissues were examined by light microscopy. Molecular genetic analysis consisted of PCR amplification and direct automated sequencing of the complete coding region of TACSTD2.

Results: Slit-lamp biomicroscopy of the patient revealed bilateral band-like corneal opacities composed of brown-yellow, oily appearing droplets at the first visit. Two years after superficial keratectomy, elevated mulberry-like gelatinous lesions companied with brown-yellow droplets in the superficial cornea in both eyes were found. Histological analysis of corneal tissue revealed subepithelial amorphous deposits stained positively with Congo red, typical of GDLD. Meanwhile, eosinophilic globular deposits with irregular peripheral margins and various sizes, which were characteristics of spheroidal degeneration, were found. Sequencing of TACSTD2 from the patient revealed a novel homozygous missense mutation c.354G>C, leading to amino acid substitution Q118H in the patient.

Conclusions: This is the first report indicating a new type of gelatinous drop-like corneal dystrophy (GDLD) combined with spheroidal degeneration. Molecular analysis demonstrated a novel mutation in TACSTD2, which may expand the spectrum of mutations in TACSTD2.

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Related in: MedlinePlus

Histopathological findings of the corneal button taken from the right eye. A: Hematoxylin and eosin staining shows amorphous deposits in the subepithelial region (asterisk). The overlying epithelium is degenerated, and Bowman’s layer is completely replaced by deposits. Underneath these amorphous deposits, there are globular deposits of various sizes with irregular peripheral margins that stained weakly with eosin (arrow). B: Amyloidal deposition is confirmed in the subepithelium with Congo red staining (asterisk). While the globular deposits of various sizes located primarily in the anterior stroma stained negatively with Congo red (arrow) (original magnification 100×).
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f4: Histopathological findings of the corneal button taken from the right eye. A: Hematoxylin and eosin staining shows amorphous deposits in the subepithelial region (asterisk). The overlying epithelium is degenerated, and Bowman’s layer is completely replaced by deposits. Underneath these amorphous deposits, there are globular deposits of various sizes with irregular peripheral margins that stained weakly with eosin (arrow). B: Amyloidal deposition is confirmed in the subepithelium with Congo red staining (asterisk). While the globular deposits of various sizes located primarily in the anterior stroma stained negatively with Congo red (arrow) (original magnification 100×).

Mentions: The removed corneal buttons from both eyes exhibiting identical pathological findings. The corneal epithelium showed variable thickness stained with hematoxylin and eosin. The basement membrane and Bowman’s layer were absent in the central part of the corneal button. An extracellular, amorphous, eosinophilic material was observed just beneath the epithelium. The subepithelial deposits stained positively with Congo red, showing an apple green birefringence, typical of amyloid under polarized light. Underneath and among these amorphous deposits, globular deposits with various sizes were found (Figure 4A). The latter was ovoid with irregular peripheral margins that stained weakly with eosin, and stained red with Masson trichrome. These globules located primarily in the anterior stroma and stained negatively with Periodic acid Schiff and Congo red (Figure 4B). No inflammatory cells could be seen around these deposits.


Gelatinous drop-like corneal dystrophy with a novel mutation of TACSTD2 manifested in combination with spheroidal degeneration in a Chinese patient.

Zhang B, Yao YF - Mol. Vis. (2010)

Histopathological findings of the corneal button taken from the right eye. A: Hematoxylin and eosin staining shows amorphous deposits in the subepithelial region (asterisk). The overlying epithelium is degenerated, and Bowman’s layer is completely replaced by deposits. Underneath these amorphous deposits, there are globular deposits of various sizes with irregular peripheral margins that stained weakly with eosin (arrow). B: Amyloidal deposition is confirmed in the subepithelium with Congo red staining (asterisk). While the globular deposits of various sizes located primarily in the anterior stroma stained negatively with Congo red (arrow) (original magnification 100×).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2927379&req=5

f4: Histopathological findings of the corneal button taken from the right eye. A: Hematoxylin and eosin staining shows amorphous deposits in the subepithelial region (asterisk). The overlying epithelium is degenerated, and Bowman’s layer is completely replaced by deposits. Underneath these amorphous deposits, there are globular deposits of various sizes with irregular peripheral margins that stained weakly with eosin (arrow). B: Amyloidal deposition is confirmed in the subepithelium with Congo red staining (asterisk). While the globular deposits of various sizes located primarily in the anterior stroma stained negatively with Congo red (arrow) (original magnification 100×).
Mentions: The removed corneal buttons from both eyes exhibiting identical pathological findings. The corneal epithelium showed variable thickness stained with hematoxylin and eosin. The basement membrane and Bowman’s layer were absent in the central part of the corneal button. An extracellular, amorphous, eosinophilic material was observed just beneath the epithelium. The subepithelial deposits stained positively with Congo red, showing an apple green birefringence, typical of amyloid under polarized light. Underneath and among these amorphous deposits, globular deposits with various sizes were found (Figure 4A). The latter was ovoid with irregular peripheral margins that stained weakly with eosin, and stained red with Masson trichrome. These globules located primarily in the anterior stroma and stained negatively with Periodic acid Schiff and Congo red (Figure 4B). No inflammatory cells could be seen around these deposits.

Bottom Line: Initially superficial keratectomy was performed for both eyes.Sequencing of TACSTD2 from the patient revealed a novel homozygous missense mutation c.354G>C, leading to amino acid substitution Q118H in the patient.Molecular analysis demonstrated a novel mutation in TACSTD2, which may expand the spectrum of mutations in TACSTD2.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology and Sir Run Run Shaw Institute of Clinical Medicine, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Zhejiang, PR China.

ABSTRACT

Purpose: To report the clinicopathological findings of a Chinese patient with an unusual phenotype of gelatinous drop-like corneal dystrophy (GDLD) combined with spheroidal degeneration and to detect molecular defect in the tumor-associated calcium signal transducer 2 (TACSTD2) gene.

Methods: Extensive physical and ophthalmologic examination of the patient was performed. Initially superficial keratectomy was performed for both eyes. Due to recurrence of the corneal opacity, penetrating keratoplasty for the right eye and deep lamellar keratoplasty for the left eye were performed. The obtained corneal tissues were examined by light microscopy. Molecular genetic analysis consisted of PCR amplification and direct automated sequencing of the complete coding region of TACSTD2.

Results: Slit-lamp biomicroscopy of the patient revealed bilateral band-like corneal opacities composed of brown-yellow, oily appearing droplets at the first visit. Two years after superficial keratectomy, elevated mulberry-like gelatinous lesions companied with brown-yellow droplets in the superficial cornea in both eyes were found. Histological analysis of corneal tissue revealed subepithelial amorphous deposits stained positively with Congo red, typical of GDLD. Meanwhile, eosinophilic globular deposits with irregular peripheral margins and various sizes, which were characteristics of spheroidal degeneration, were found. Sequencing of TACSTD2 from the patient revealed a novel homozygous missense mutation c.354G>C, leading to amino acid substitution Q118H in the patient.

Conclusions: This is the first report indicating a new type of gelatinous drop-like corneal dystrophy (GDLD) combined with spheroidal degeneration. Molecular analysis demonstrated a novel mutation in TACSTD2, which may expand the spectrum of mutations in TACSTD2.

Show MeSH
Related in: MedlinePlus