Author

Gabriella Doddato

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Open access Sep 2026

Natural History of Macular Sensitivity in Best Vitelliform Macular Dystrophy: Microperimetry-Derived Outcome Measures in Preparation For Clinical Trials

Purpose To characterize the longitudinal changes of macular sensitivity in best vitelliform macular dystrophy (BVMD) and explore microperimetry (MP)-derived outcome measures for clinical trials. Methods Natural history cohort study (IRDs-OSR, NCT07265895) on subjects with BVMD undergoing mesopic MP (68-point grid, cent...

Lorenzo Bianco, Giovanni Forte, Alessio Antropoli et al. · Investigative Ophthalmology... · 0 citations

Case report Aug 2026

A novel FLNA missense variant in a mother–daughter pair with epilepsy: case series evidence of variable multisystem expressivity

Findings support a likely contributory role of FLNA p.Pro1926Ser in a variably expressive neurodevelopmental and multisystem disorder in which epilepsy represents the predominant neurological phenotype.

A. Bombaci, E. Micaglio, Sara Benedetti et al. · Neurological Sciences · 0 citations