Citation:Zhu J,Cheng HB,Fan N,Liu CM,Yu WH,Chen XM,Liu XY.Studies of a pedigree with limbal dermoid cyst.Int J Ophthalmol 2012;5(5):641-643,doi:10.3980/j.issn.2222-3959.2012.05.20
Studies of a pedigree with limbal dermoid cyst
Received:February 06, 2012  Revised:July 15, 2012
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DOI:10.3980/j.issn.2222-3959.2012.05.20
Key Words:Pedigree  dermoid cyst  limbus  PITX2 gene
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Jing Zhu Ophthalmic Laboratories and Department of Ophthalmology, Translational neuroscience Center, West China Hospital, Sichuan University, Chengdu , Sichuan Province, China
Hong-Bo Cheng Shenzhen Eye Hospital, Shenzhen , Guangdong Province, China
Ning Fan Shenzhen Eye Hospital, Shenzhen , Guangdong Province, China
Chun-Ming Liu Shenzhen Eye Hospital, Shenzhen , Guangdong Province, China
Wen-Han Yu Ophthalmic Laboratories and Department of Ophthalmology, Translational neuroscience Center, West China Hospital, Sichuan University, Chengdu , Sichuan Province, China
Xiao-Ming Chen Ophthalmic Laboratories and Department of Ophthalmology, Translational neuroscience Center, West China Hospital, Sichuan University, Chengdu , Sichuan Province, China
Xu-Yang Liu Shenzhen Eye Hospital, Shenzhen , Guangdong Province, China
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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.

PMC FullText Html:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484697/
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