Genetic penetrance of macular telangiectasia type 2
CC Ronquillo, K Wegner, CM Calvo… - JAMA …, 2018 - jamanetwork.com
Importance The apparent genetic penetrance of macular telangiectasia type 2 (MacTel) is
important for gene discovery studies and for clinical risk assessment of affected individuals'
family members. Objective To determine the genetic penetrance of MacTel. Design, Setting,
and Participants Descriptive cross-sectional study of patients with MacTel at a tertiary
referral eye center. From 2008 to 2016, consecutive patients with MacTel were
independently identified, and all of their available siblings and parents were recruited …
important for gene discovery studies and for clinical risk assessment of affected individuals'
family members. Objective To determine the genetic penetrance of MacTel. Design, Setting,
and Participants Descriptive cross-sectional study of patients with MacTel at a tertiary
referral eye center. From 2008 to 2016, consecutive patients with MacTel were
independently identified, and all of their available siblings and parents were recruited …