Genetics of the pediatric glaucomas.

摘要

The following review looks at the genetics of the pediatric glaucomas. With a greater understanding of the genetics of the pediatric glaucomas, better care and genetic counseling can be provided to patients at risk. Sequence analysis may help to confirm a diagnosis of pediatric glaucoma if a known mutation is identified, but finding a known mutation is generally more likely in patients with bilateral disease, a positive family history, and parental consanguinity.In at risk individuals, amniocentesis and chorionic villus sampling can be performed at 15 to 18 and 10 to 12 weeks gestation, respectively.For this review, we will focus either on the common pediatric glaucomas or on the rare ocular diseases where glaucoma presents commonly.