Pediatric Glaucoma Without Anterior Segment Dysgenesis
Families with autosomal dominant inheritance of early-onset glaucoma without anterior segment dysgenesis (eg, JOAG) can be tested for mutations in MYOC (GLC1A), the gene coding for myocilin. Aggregation of abnormal myocilin, a protein found in the trabecular meshwork and ciliary body, is thought to cause trabecular meshwork dysfunction. This protein was formerly called TIGR (trabecular meshwork–inducible glucocorticoid response protein). Approximately 20% of these families will have MYOC mutations. The confirmed presence of a MYOC mutation can prompt earlier screening and monitoring of other family members.
Excerpted from BCSC 2020-2021 series: Section 10 - Glaucoma. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.