Genetic Penetrance of Macular Telangiectasia Type 2.

ABSTRACT:

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. Seventeen probands with MacTel were included in the study who satisfied the requirement of having at least 1 parent or sibling willing and able to participate. Data from these 17 families were included for the analysis of apparent genetic penetranc

SUBMITTER: Ronquillo CC 

PROVIDER: S-EPMC6233841 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature