Genetics of primary glaucoma

AO Khan - Current opinion in ophthalmology, 2011 - journals.lww.com
Current opinion in ophthalmology, 2011journals.lww.com
Seemingly unaffected siblings of children with CYP1B1-related primary congenital/infantile
glaucoma should undergo genetic testing because of variable expressivity for the
phenotype; such testing should also be considered for other asymptomatic relatives,
especially in consanguineous families. In western populations, dominant MYOC mutation
remains a common cause of primary open-angle juvenile glaucoma and infrequently can be
implicated in congenital/infantile or adult-onset forms; identified families should undergo …
Summary
Seemingly unaffected siblings of children with CYP1B1-related primary congenital/infantile glaucoma should undergo genetic testing because of variable expressivity for the phenotype; such testing should also be considered for other asymptomatic relatives, especially in consanguineous families. In western populations, dominant MYOC mutation remains a common cause of primary open-angle juvenile glaucoma and infrequently can be implicated in congenital/infantile or adult-onset forms; identified families should undergo genetic counseling. Primary adult-onset open-angle glaucoma rarely follows simple Mendelian genetics, but genomic studies in different populations are revealing potential genetic risk factors for the phenotype.
Lippincott Williams & Wilkins