Familial glaucoma mystery solved

Glaucoma Family Pedigree
Wed, 04/13/2022 - 07:30

A large family that was first described in the 1950s by Frey and Posner had dominantly inherited juvenile glaucoma. Descendants of the family seen by Dr. Harry Quigley at Wilmer Eye Institute also had early-onset glaucoma. A collaboration between Dr. Quigley and investigators at the University of Iowa (John Fingert and Edwin Stone) identified a myocilin mutation as the cause of glaucoma in this family, 70 years after it was first reported. Read more about it here.