Genetic counseling and diagnostic testing are important for patients with early-onset glaucoma or ocular developmental abnormalities associated with a high risk of developing glaucoma. Testing for disease-causing mutations in the genes listed in Table 1-2 can be useful to determine patterns of inheritance, identify children at risk early in the disease course, and estimate risk to future offspring.
Lewis CJ, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM, Fingert JH. Primary congenital and developmental glaucomas. Hum Mol Genet. 2017;26(R1):R28–R36.
Wiggs JL, Pasquale LR. Genetics of glaucoma. Hum Mol Genet. 2017;26(R1):R21–R27.
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.