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April 7, 2022

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

Author Affiliations
  • 1Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, Maryland
  • 2Department of Ophthalmology, Carver College of Medicine, Iowa City, Iowa
  • 3Institute for Vision Research, University of Iowa, Iowa City
JAMA Ophthalmol. 2022;140(5):543-544. doi:10.1001/jamaophthalmol.2022.0556

Heredity is a prominent feature of some cases of juvenile open-angle glaucoma (JOAG). Several classic articles by Stokes,1 Frey and Posner,2 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.3 Descendants from several of the JOAG pedigrees in classic reports have participated in genetic studies with MYOC testing. For example, an Ile477Asn MYOC mutation was detected in members of the JOAG pedigree described by Stokes in 1940.1,3 A different MYOC mutation (Tyr437His)3 was discovered in studies of another large JOAG pedigree characterized by Johnson and colleagues4 in 1993. In this report, we review a JOAG pedigree described by Frey and Posner2 in Archives of Ophthalmology in 1952 and describe the clinical characteristics and genetic testing of descendants who also have JOAG.

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