Studies of a pedigree with limbal dermoid cyst
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    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 sequence variations were found in PITX2, indicating that this phenotype in this family is a distinctive entity.

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Jing Zhu, Hong-Bo Cheng, Ning Fan, et al. Studies of a pedigree with limbal dermoid cyst. Int J Ophthalmol, 2012,5(5):641-643

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Publication History
  • Received:February 06,2012
  • Revised:July 15,2012
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