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

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 manage...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eye (Lond)
Prif Awduron: Stephenson, Kirk A. J., Dockery, Adrian, O’Keefe, Michael, Green, Andrew, Farrar, G. Jane, Keegan, David J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2019
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7093504/
https://ncbi.nlm.nih.gov/pubmed/31527767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41433-019-0580-2
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