Familial Glaucoma

Familial Glaucoma—A Pedigree Revisited With Genetic Testing After 70 Years

“…In their article describing this JOAG pedigree, Frey and Posner concluded, “The pedigree discussed illustrates the well-established fact that glaucoma may be not only familial, but definitely hereditary in certain families.… The inherited factor is as yet not known.” Seventy years later, the inherited factor for this large JOAG pedigree is now known and may be used to improve precision in family counseling, diagnosis, prognosis, and treatment selection.…”

“…Frey and Posner reported a pedigree with autosomal dominant inheritance of JOAG (Figure) and clinical data from 6 affected family members. Mean (SD) age at diagnosis was 33 (16) years, and mean (SD) maximum IOP was 38 (9.4) mm Hg.…”

“…Heredity is a prominent feature of some cases of juvenile open-angle glaucoma (JOAG). Several classic articles by Stokes, Frey and Posner, and others reported pedigrees with early-onset JOAG, high intraocular pressure (IOP), and autosomal dominant inheritance. Genetic analyses demonstrated that mutations in the myocilin ( MYOC ) gene (OMIM 601652) are responsible for many cases of JOAG .…”

“…A different MYOC mutation (Tyr437His) was discovered in studies of another large JOAG pedigree characterized by Johnson and colleagues in 1993. In this report, we review a JOAG pedigree described by Frey and Posner in Archives of Ophthalmology in 1952 and describe the clinical characteristics and genetic testing of descendants who also have JOAG.…”