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Genetic testing identifies mutations known to cause inherited glaucoma
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WAIKOLOA, Hawaii — Genetic testing is available to identify mutations in genes known to cause dominant and recessive forms of inherited glaucoma, a speaker said here.
According to Janey L. Wiggs, MD, PhD, genetic testing for early-onset forms of glaucoma can provide valuable diagnostic and prognostic information.
Janey L. Wiggs
“For glaucoma, you really want to be able to treat people most effectively at the earliest stages of the disease,” she said at Hawaiian Eye 2013. “In addition to treatment tests, we can develop diagnostic tests, which will give [patients] a likely diagnosis, which is becoming increasingly important in terms of gene-based therapies. In some instances, we can also help establish a prognosis for a patient based on a specific gene mutation that they have.”
Currently, the genes CYP1B1 and LTBP2 can be tested for a prognosis of recessive congenital glaucoma; the myocilin gene can be tested for dominant open angle closure glaucoma; the genes PITX2, FOXC1, LMX1B and PAX6 can be tested for Axenfeld-Rieger syndrome and aniridia; and the optineurin and OPA1 genes can be tested for dominant familial normal tension glaucoma.
“Eventually, what we are looking forward to is a comprehensive gene panel that will tell us everything about a patient in regard to their glaucoma,” Wiggs said. “In today’s world, however, what we can test for are mutations in genes that are known to cause dominant and recessive forms of inherited glaucoma. The reason why we can do these and not the more common genetic risk factors is that these actually cause the disease, so we can give real information back to the patient and the physician.”
Disclosure: Wiggs has no relevant financial disclosures.