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

[Oculocutaneous albinism].

J P Lacour1, J P Ortonne

  • 1Service de Dermatologie, Hôpital Pasteur, Nice.

Annales De Pediatrie
|September 1, 1992
PubMed
Summary
This summary is machine-generated.

Oculocutaneous albinism (OCA) is an inherited disorder causing hypopigmentation in skin, hair, and eyes. Genetic research is advancing the classification of OCA syndromes by identifying new mutations.

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

Tildrakizumab efficacy and safety in patients with psoriasis and concomitant metabolic syndrome: post hoc analysis of 5-year data from reSURFACE 1 and reSURFACE 2.

Journal of the European Academy of Dermatology and Venereology : JEADV·2022
Same author

Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations.

The British journal of dermatology·2021
Same author

Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.

The British journal of dermatology·2020
Same author

Catastrophic acute bilateral lower limbs necrosis associated with COVID-19 as a likely consequence of both vasculitis and coagulopathy.

Journal of the European Academy of Dermatology and Venereology : JEADV·2020
Same author

Incontinentia pigmenti in boys: Causes and consequences.

Annales de dermatologie et de venereologie·2020
Same author

Probiotics for recurrent idiopathic aphthous stomatitis in adults: a placebo-controlled randomized trial.

Journal of the European Academy of Dermatology and Venereology : JEADV·2020
Same journal

[Natal and neonatal teeth. Management].

Annales de pediatrie·1993
Same journal

[Prevention of hip luxation in children disabled with cerebral palsy].

Annales de pediatrie·1993
Same journal

[Risks of failure of uncontrolled adoption of foreign children].

Annales de pediatrie·1993
Same journal

[Hepatic hydatidosis and portal hypertension in children. Is it the Budd-Chiari syndrome?].

Annales de pediatrie·1993
Same journal

[Neonatal testicular ischemic necrosis without torsion, associated with antithrombin III deficit].

Annales de pediatrie·1993
Same journal

[Diffuse neonatal hemangiomatosis. A case with tetralogy of Fallot].

Annales de pediatrie·1993
See all related articles

Area of Science:

  • Genetics
  • Ophthalmology
  • Dermatology

Context:

  • Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by generalized hypopigmentation.
  • Ocular manifestations include photophobia, reduced visual acuity due to foveal hypoplasia, nystagmus, and strabismus.
  • Cutaneous hypopigmentation increases skin cancer risk due to reduced photoprotection.

Purpose:

  • To summarize the current understanding of oculocutaneous albinism (OCA).
  • To highlight the genetic basis and clinical features of OCA.
  • To discuss the association of OCA with other syndromes and the ongoing genetic research.

Summary:

  • OCA involves inherited hypopigmentation of skin, hair, and eyes, with significant ocular and dermatological consequences.

Related Experiment Videos

  • Severe ocular issues like photophobia and nystagmus, alongside increased skin cancer risk, are characteristic.
  • OCA is linked to syndromes such as Hermansky-Pudlak, Chediak-Higashi, and Griscelli-Prunieras, primarily inherited in an autosomal recessive pattern.
  • Recent identification of mutations in type I OCA (tyrosinase-negative OCA) signifies progress in genetic classification.

    • Impact:

    • Advances in genetic identification promise more accurate classification of OCA syndromes.
    • Improved understanding aids in managing associated ocular and dermatological risks.
    • Genetic insights can inform future therapeutic strategies and genetic counseling for affected families.