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Glaucoma

  • MYOC
  • CYP1B1
  • OPTN
  • WDR36
Primary Open Angle Glaucoma (POAG) is the most common type of glaucoma, affecting about 37 million people. Based on the age of onset, POAG is divided into juvenile-onset POAG (JOAG) and adult-onset POAG. JOAG (age of onset 3–35 years) is associated with high intraocular pressure, visual field loss, and optic disc damage, and requires early surgical therapy. In Primary Open Angle Glaucoma (POAG), including Juvenile Open Angle Glaucoma (JOAG), three causative genes have been identified: Myocilin (MYOC), Optineurin (OPTN), and WD repeat domain 36 (WDR36). These 3 genes account for less than 10% of POAG overall, although this percentage is higher in glaucoma patients with juvenile onset.

Primary Congenital Glaucoma (PCG) s a form of glaucoma commonly referred to as infantile or congenital glaucoma. It is the most common form of glaucoma in infants, with more than 80% of cases observed within the first year of life. Characteristic clinical features of PCG include tearing, photophobia, corneal edema and buphthalmos resulting from elevated intraocular pressure, which can rapidly lead to permanent loss of vision if left untreated. Mutations in the CYP1B1 gene have been found in almost all familial cases and in 20-50% of simplex cases.

Using genomic DNA obtained from a venous blood sample (1-5 mL in EDTA) or buccal swabs (GeneDx kit only), GeneDx will perform bi-directional sequence analysis of the coding exons and intron/exon boundaries of the MYOC, CYP1B1, OPTN and/or WDR36 genes. The sequencing test performed by GeneDx will detect all known mutation types in MYOC, CYP1B1, OPTN and WDR36 with the exception of large gene deletions. As mutations resulting in haploinsufficiency have been reported in the CYP1B1, OPTN and MYOC genes, it is possible that deletions/duplications of one or more exons of any of these genes may play a role in this disorder. Targeted array CGH analysis with exon-level resolution (ExonArrayDx) is available to evaluate for a deletion or duplication of one or more exons of each gene (MYOC, OTPN, CYP1B1). This testing requires submission of a blood specimen.

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MYOC; CYP1B1; Glaucoma; POAG; PCG; JOAG; juvenile; congenital; eye; blindness; corneal edema; photophobia; light sensitivity; vision loss; axonal loss; visual field loss; vision loss, IOP; high IOP; optic disc; optic disc damage; optic damage; vision damage

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