title: Studies of a pedigree with limbal dermoid cyst.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Ophthalmic Laboratories and Department of Ophthalmology, Translational neuroscience Center, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhu
authors.forename: Hong-Bo
authors.initials: HB
authors.lastname: Cheng
authors.forename: Ning
authors.initials: N
authors.lastname: Fan
authors.forename: Chun-Ming
authors.initials: CM
authors.lastname: Liu
authors.forename: Wen-Han
authors.initials: WH
authors.lastname: Yu
authors.forename: Xiao-Ming
authors.initials: XM
authors.lastname: Chen
authors.forename: Xu-Yang
authors.initials: XY
authors.lastname: Liu