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Updated: Mar 10, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
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Visual Impairment Due to Lissencephaly.

V E Marqués-Fernández1, H Sánchez-Tocino2, M T Escudero-Caro3

  • 1Department of Ophthalmology, University Rio Hortega Hospital , Valladolid, Spain.

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Lissencephaly, a brain development disorder, can cause vision loss. This case highlights the importance of considering cortical defects in children with unexplained poor vision.

Keywords:
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Area of Science:

  • Neuroscience
  • Ophthalmology
  • Genetics

Background:

  • Lissencephaly is a rare cortical malformation linked to abnormal neuronal migration.
  • It often presents with neurological deficits like intellectual disability and epilepsy.
  • Visual pathway disturbances in lissencephaly can lead to significant vision impairment.

Observation:

  • A 6-year-old boy presented with poor bilateral vision.
  • Initial neurological examination was normal, with no other known medical conditions.
  • Magnetic resonance imaging revealed lissencephaly-pachygyria with occipital band heterotopia.

Findings:

  • The patient's poor vision was associated with lissencephaly-pachygyria, a rare brain malformation.
  • The occipital location of the cortical defect correlated with visual pathway involvement.
  • This case underscores the link between cortical malformations and visual deficits.

Implications:

  • Cortical malformations, such as lissencephaly, should be considered in the differential diagnosis of pediatric vision loss.
  • Ophthalmologists should be aware of potential neurological underpinnings in cases of unexplained visual impairment.
  • Advanced neuroimaging is crucial for diagnosing conditions like lissencephaly and understanding their impact on vision.