Studies of a pedigree with limbal dermoid cyst.

ABSTRACT:

Aim

To study clinical features and gene mutations within the paired-like homeodomain transcription factor 2 (PITX2) gene in a pedigree of bilateral limbal dermoids.

Methods

Complete eye examinations have been performed on each individual of the family. Exons of paired-like homeodomain transcription factor 2 (PITX2) were amplified by polymerase chain reaction, sequenced, and compared with a reference database.

Results

We described the phenotype, clinic findings in a family with two affected members. The masses of the proband's eyes were excised surgically demonstrating a dermoid cyst by histopathological examination. No mutation was detected in the gene PITX2 in this pedigree.

Conclusion

A family of limbal dermoid cyst was reported. In addition, no pathogenic se

SUBMITTER: Zhu J 

PROVIDER: S-EPMC3484697 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature