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Updated: Aug 5, 2025

A Method to Quantify Visual Information Processing in Children Using Eye Tracking
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Visual Function in Children with GNAO1-Related Encephalopathy.

Maria Luigia Gambardella1, Elisa Pede1, Lorenzo Orazi2,3

  • 1Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Genes
|March 29, 2023
PubMed
Summary

GNAO1 encephalopathies impact neurovisual skills, with some visual functions impaired long-term while others improve with age. This research details visual development patterns in children with GNAO1 deficiency.

Keywords:
GNAO1 mutationneurovisual competencesvisual function

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Area of Science:

  • Neuroscience
  • Genetics
  • Ophthalmology

Background:

  • GNAO1-related encephalopathies are developmental disorders stemming from de novo heterozygous mutations in the GNAO1 gene.
  • These conditions manifest as epilepsy, movement disorders, and developmental delays, individually or combined.

Purpose of the Study:

  • To characterize the neurovisual competences in children with GNAO1 deficiency.
  • To further define the phenotypic spectrum of GNAO1-related disorders.

Main Methods:

  • Neurological, visual function, and neurovisual assessments were performed on seven patients (4 male, 3 female) with confirmed GNAO1 mutations.
  • Clinical history, epilepsy, movement disorders, and neuroimaging findings were analyzed.

Main Results:

  • Two distinct visual development patterns were observed.
  • Impairments in visual discrimination, and perception of distance, depth, and volume persisted across all ages.
  • Visual functions associated with the ventral stream, including object recognition and environmental control, showed preservation and age-related improvement.

Conclusions:

  • Visual function deficits are common in GNAO1 encephalopathies.
  • The ventral visual stream appears less affected compared to other visual pathways.