Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Visual evoked potentials in Prader-Willi syndrome.

P Apkarian1, H Spekreijse, E van Swaay

  • 1Netherlands Ophthalmic Research Institute, Amsterdam, the Netherlands.

Documenta Ophthalmologica. Advances in Ophthalmology
|April 1, 1989
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Neurodevelopmental retardation, as assessed clinically and with magnetoencephalography and electroencephalography, associated with perinatal dioxin exposure.

The Science of the total environment·2014
Same author

Sixty strabismus cases operated with the Computerized Strabismus Model 1.0: When does it benefit, when not ?

Strabismus·2011
Same author

Robinson's Computerized Strabismus Model Comes of Age.

Strabismus·2011
Same author

The prenatal development of the human orbit.

Strabismus·2006
Same author

Paraneoplastic vitelliform retinopathy associated with cutaneous or uveal melanoma and metastases.

Klinische Monatsblatter fur Augenheilkunde·2005
Same author

A gradual spread of attention during mental curve tracing.

Perception & psychophysics·2003

Hypopigmentation in Prader-Willi syndrome (PWS) patients is likely from neural crest cells, not optic pathway misprojections. This study examined oculocutaneous, electrophysiological, and cytogenetic factors in PWS.

Area of Science:

  • Neuroscience
  • Genetics
  • Ophthalmology

Background:

  • Prader-Willi syndrome (PWS) is often associated with chromosomal anomalies, particularly deletions on chromosome 15, and hypopigmentation affecting hair, skin, and eyes.
  • Albinism, a genetic condition, also involves hypopigmentation linked to neural ectoderm derivatives, causing visual acuity deficits and aberrant retinogeniculocortical projections.
  • Visual evoked potentials (VEPs) can assess hemispheric response symmetry, indicating optic pathway integrity.

Purpose of the Study:

  • To investigate the potential neural ectodermal origin of hypopigmentation in PWS patients.
  • To determine the involvement of hypopigmentation in ocular development and optic pathway integrity in PWS.
  • To analyze visual evoked potential (VEP) distributions to understand optic pathway projections.

Related Experiment Videos

Main Methods:

  • Evaluated oculocutaneous, electrophysiological (VEP), and cytogenetic factors in 14 PWS patients and 3 controls.
  • Assessed pattern onset/offset VEPs to examine potential distributions and hemispheric symmetry.
  • Analyzed chromosomal abnormalities and hypopigmentation in PWS patients.

Main Results:

  • Hypopigmentation was observed in 13 of 14 PWS patients; chromosomal abnormalities were found in 6, with no correlation between the two.
  • PWS patients did not exhibit the characteristic contralateral hemispheric asymmetry seen in albinism.
  • VEP profiles in PWS patients were atypical, making waveform and cortical topography interpretation challenging.

Conclusions:

  • The hypopigmentation observed in Prader-Willi syndrome is likely of neural crest origin.
  • Absence of VEP evidence for optic pathway misprojection suggests a different developmental pathway compared to albinism.
  • Further research is needed to fully elucidate the atypical VEP findings in PWS.