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...

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Detalles Bibliográficos
Autores principales: Stephenson, Kirk A. J., Dockery, Adrian, O’Keefe, Michael, Green, Andrew, Farrar, G. Jane, Keegan, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093504/
https://www.ncbi.nlm.nih.gov/pubmed/31527767
http://dx.doi.org/10.1038/s41433-019-0580-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093504/
https://www.ncbi.nlm.nih.gov/pubmed/31527767
http://dx.doi.org/10.1038/s41433-019-0580-2

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