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Updated: May 16, 2026
A Simple Mechanical Procedure to Create Limbal Stem Cell Deficiency in Mouse
Published on: November 17, 2016
Studies of a pedigree with limbal dermoid cyst
Jing Zhu1, Hong-Bo Cheng, Ning Fan
1Ophthalmic Laboratories and Department of Ophthalmology, Translational neuroscience Center, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.
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.
