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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

Slitlamp photographs of the right cornea of the proband four year after penetrating keratoplasty. Elevated, mulberry-like gelatinous lesions companied with yellowish globular droplets are showed.
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f3: Slitlamp photographs of the right cornea of the proband four year after penetrating keratoplasty. Elevated, mulberry-like gelatinous lesions companied with yellowish globular droplets are showed.

Mentions: The proband was treated by superficial keratectomy in both eyes in January 2000. The vision was improved to 6/12 for one year and then decreased. Slit-lamp examination showed grayish-white nodular elevations companied with yellowish globular droplets in the anterior stroma in both eyes two years after the surgery (Figure 2). A clinical diagnosis of gelatinous drop-like corneal dystrophy (GDLD) combined with spheroidal degeneration was made. In March 2004, the best-corrected visual acuity of the proband was 6/24 in both eyes and a penetrating keratoplasty was performed in the right eye. In July 2008, a deep lamellar keratoplasty was performed in the left eye. Both eyes restored corneal clarity and achieved a best corrected visual acuity as 6/12 at 1 year postoperatively. There was obvious recurrence of corneal opacity in the right eye four years later and the vision acuity decreased to 6/30 in 2009. Slit-lamp examination showed elevated, mulberry-like gelatinous lesions companied with yellowish globular droplets (Figure 3). There was no obvious recurrence of corneal opacity in the left eye till now.


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)

Slitlamp photographs of the right cornea of the proband four year after penetrating keratoplasty. Elevated, mulberry-like gelatinous lesions companied with yellowish globular droplets are showed.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f3: Slitlamp photographs of the right cornea of the proband four year after penetrating keratoplasty. Elevated, mulberry-like gelatinous lesions companied with yellowish globular droplets are showed.
Mentions: The proband was treated by superficial keratectomy in both eyes in January 2000. The vision was improved to 6/12 for one year and then decreased. Slit-lamp examination showed grayish-white nodular elevations companied with yellowish globular droplets in the anterior stroma in both eyes two years after the surgery (Figure 2). A clinical diagnosis of gelatinous drop-like corneal dystrophy (GDLD) combined with spheroidal degeneration was made. In March 2004, the best-corrected visual acuity of the proband was 6/24 in both eyes and a penetrating keratoplasty was performed in the right eye. In July 2008, a deep lamellar keratoplasty was performed in the left eye. Both eyes restored corneal clarity and achieved a best corrected visual acuity as 6/12 at 1 year postoperatively. There was obvious recurrence of corneal opacity in the right eye four years later and the vision acuity decreased to 6/30 in 2009. Slit-lamp examination showed elevated, mulberry-like gelatinous lesions companied with yellowish globular droplets (Figure 3). There was no obvious recurrence of corneal opacity in the left eye till now.

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