AIM: To study a large glaucoma family by screening the disease-causing genes in order to understand the pathogenesis mechanism of glaucoma.

METHODS: The diagnosis of glaucoma family was made by ophthalmological examination; peripheral blood was collected and the pedigree map was drawn. The genome DNA of the patients was extracted. The exons of MYOC, CYP1B1, OPTN, and WDR36 were amplified by PCR and sequenced. The data were analyzed by comparing the corresponding reference sequence in the database. Based on the target gene region capture technology, ophthalmic chip was used for further analysis. We were hoping to identify disease gene of the family or discover the new pathogenic site.

RESULTS: Among all exons of MYOC, CYP1B1, OPTN, and WDR36, was no mutation gene identified as the disease causing gene, excluded most known candidate gene mutation of glaucoma and found 5 suspicious sites by the ophthalmic chip.

CONCLUSION: Glaucoma is a polygenic disease, the known glaucoma-causing genes may not be involved the pathogenesis of the glaucoma in this family. Further studies are needed to identify the molecular basis of this family with glaucoma.