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Visual Agnosia01:12

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Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round...
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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Chromosomal aberrations in cerebral visual impairment.

Daniëlle G M Bosch1, F Nienke Boonstra2, Margot R F Reijnders3

  • 1Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|June 11, 2014
PubMed
Summary

Chromosomal aberrations are linked to cerebral visual impairment (CVI) in children. Routine chromosomal investigations are recommended for accurate diagnosis and genetic counseling in CVI patients.

Keywords:
AneuploidyCerebral visual impairmentChromosomal aberrationsCopy number variationsGenetic

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Area of Science:

  • Genetics
  • Ophthalmology
  • Pediatrics

Background:

  • Cerebral visual impairment (CVI) affects visual processing and interpretation due to brain-related issues.
  • CVI accounts for a significant portion (27%) of visual impairments in children.

Purpose of the Study:

  • To investigate the role of chromosomal aberrations in the etiology of cerebral visual impairment (CVI).
  • To identify new chromosomal abnormalities associated with CVI.

Main Methods:

  • Retrospective analysis of 607 patients diagnosed with CVI and visual acuity ≤0.3.
  • Assessment for the presence and pathogenicity of chromosomal aberrations.

Main Results:

  • Chromosomal aberrations were identified in 13% (79/607) of the patient cohort.
  • A significant association between chromosomal aberrations and CVI was found in 7% (41/607) of patients.
  • Fifteen novel chromosomal aberrations linked to CVI were identified in this study.

Conclusions:

  • Chromosomal aberrations are a relevant etiological factor in a subset of CVI patients.
  • Routine chromosomal analysis is crucial for effective diagnosis and genetic counseling in individuals with CVI.
  • The study highlights previously unreported chromosomal aberrations associated with CVI, expanding diagnostic possibilities.