Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.

ABSTRACT:

Background

Ectopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations may cause abnormal structure of microfibrils and has been associated with a broad spectrum of clinical phenotypes. In this study, we characterised a Chinese dominant family with late-onset isolated ectopia lentis caused by a novel missense FBN1 mutation.

Methods

Eight family members, including four patients with suspected isolated ectopia lentis, were recruited from Shanghai. Clinical data and family history of the proband and other affected family members were collected. Ophthalmic examination, systemi

SUBMITTER: Yang Y 

PROVIDER: S-EPMC7907564 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature