Visual Function in Children with GNAO1-Related Encephalopathy

Maria Luigia Gambardella, Elisa Pede, Lorenzo Orazi, Simona Leone, Michela Quintiliani, Giulia Maria Amorelli, Maria Petrianni, Marta Galanti, Filippo Amore, Elisa Musto, Marco Perulli, Ilaria Contaldo, Chiara Veredice, Eugenio Maria Mercuri, Domenica Immacolata Battaglia, Daniela Ricci

Research output: Contribution to journalArticlepeer-review


Background: GNAO1-related encephalopathies include a broad spectrum of developmental disorders caused by de novo heterozygous mutations in the GNAO1 gene, encoding the G (o) subunit alpha of G-proteins. These conditions are characterized by epilepsy, movement disorders and developmental impairment, in combination or as isolated features. Objective: This study aimed at describing the profile of neurovisual competences in children with GNAO1 deficiency to better characterize the phenotype of the disease spectrum. Methods: Four male and three female patients with confirmed genetic diagnosis underwent neurological examination, visual function assessment, and neurovisual and ophthalmological evaluation. Present clinical history of epilepsy and movement disorders, and neuroimaging findings were also evaluated. Results: The assessment revealed two trends in visual development. Some aspects of visual function, such as discrimination and perception of distance, depth and volume, appeared to be impaired at all ages, with no sign of improvement. Other aspects, reliant on temporal lobe competences (ventral stream) and more related to object-face exploration, recognition and environmental control, appeared to be preserved and improved with age. Significance: Visual function is often impaired, with patterns of visual impairment affecting the ventral stream less.
Original languageEnglish
Pages (from-to)544-553
Number of pages10
Publication statusPublished - 2023


  • GNAO1 mutation
  • neurovisual competences
  • visual function


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