scispace - formally typeset
Search or ask a question

Showing papers by "Fernando Gianfrancesco published in 2019"

Journal Article•DOI•
Early posterior vitreous detachment is associated with LAMA5 dominant mutation.

[...]

Filomena Napolitano1, Filomena Napolitano2, Valentina Di Iorio2, Giuseppe Di Iorio2, Mariarosa A. B. Melone2, Mariarosa A. B. Melone3, Fernando Gianfrancesco1, Francesca Simonelli2, Teresa Esposito1, Francesco Testa2, Simone Sampaolo2 •
National Research Council1, Seconda Università degli Studi di Napoli2, Temple University3
02 Jan 2019-Ophthalmic Genetics
TL;DR: PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait, and it is shown that the p.(V3140M) mutation results in a reduction of retinal inner limiting membrane (ILM) stability, leading to a derangement in the macromolecular structure of the vitreous gel, and PVD.
Abstract: Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome cau...

11 citations