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

Albinism: an update

S J Orlow1

  • 1New York University Medical Center, New York 10016, USA.

Seminars in Cutaneous Medicine and Surgery
|March 1, 1997
PubMed
Summary

Albinism comprises genetic disorders affecting eye and skin pigment. These conditions, oculocutaneous albinism (OCA) and ocular albinism (OA), are classified by pigmentation impact, with some gene mutations causing either type.

Related Experiment Videos

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

Inhibition of the CRAF/prohibitin interaction reverses CRAF-dependent resistance to vemurafenib.

Oncogene·2016
Same author

Pegylated liposomal doxorubicin (PLD): enhanced skin toxicity in areas of vitiligo.

Ecancermedicalscience·2012
Same author

Undifferentiated pleomorphic sarcoma in a child with type 1 neurofibromatosis.

The British journal of dermatology·2010
Same author

Androgenetic alopecia in the paediatric population: a retrospective review of 57 patients.

The British journal of dermatology·2010
Same author

Mycophenolate mofetil for severe childhood atopic dermatitis: experience in 14 patients.

The British journal of dermatology·2007
Same author

Ulcerated haemangioma of infancy: a retrospective review of 47 patients.

The British journal of dermatology·2007

Area of Science:

  • Genetics
  • Ophthalmology
  • Dermatology

Background:

  • Albinism is a group of genetic disorders.
  • Characterized by reduced ocular and cutaneous pigmentation.
  • Subclassified as oculocutaneous albinism (OCA) or ocular albinism (OA).

Purpose of the Study:

  • To define albinism and its classifications.
  • To explain the basis for subclassification.
  • To highlight genetic heterogeneity in albinism.

Main Methods:

  • Literature review of albinism genetics.
  • Analysis of clinical and genetic data.
  • Gene mutation correlation studies.

Main Results:

  • Albinism encompasses diverse genetic conditions.
  • OCA and OA classification depends on skin/hair pigmentation.
  • Variable mutations in a single gene can lead to OCA or OA.

Conclusions:

  • Albinism classification is based on phenotypic presentation.
  • Genetic mutations play a crucial role in albinism.
  • Understanding genotype-phenotype correlations is key.