A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics.

ABSTRACT:

Background/objectives

Fibrillin-1 (FBN1) mutations cause connective tissue dysgenesis the main ocular manifestation being ectopia lentis (EL), which may be syndromic or non-syndromic. We describe a pedigree with a FBN1 mutation causing non-syndromic EL with retinal detachment (RRD) and their management.

Subjects/methods

Patients with familial EL with RRD were invited to participate (vitreoretinopathy branch of Target 5000, the Irish inherited retinal degeneration study). All patients signed full informed consent. The study was approved by the Institutional Review Board of the Mater Hospital, Dublin and abided by the Declaration of Helsinki.

Results

Seven adults were affected with bilateral EL. All subjects had RRD with bilateral non-synchronous RRD in 57%.

Conclusi

SUBMITTER: Stephenson KAJ 

PROVIDER: S-EPMC7093504 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature