Early posterior vitreous detachment is associated with LAMA5 dominant mutation.
Filomena NapolitanoValentina Di IorioGiuseppe Di IorioMariarosa Anna Beatrice MeloneFernando GianfrancescoFrancesca SimonelliTeresa EspositoFrancesco TestaSimone SampaoloPublished in: Ophthalmic genetics (2018)
In this work we showed that PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait. We hypothesize 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. Further investigations will be necessary to elucidate the role of wild type and mutated LAMA5 in the pathogenesis of PVD.