Oculocutaneous Albinism and Ocular Albinism Overview

Mervyn G Thomas; Jonathan Zippin; Brian P Brooks

Oculocutaneous Albinism and Ocular Albinism Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2023 Apr 13.

Authors

Mervyn G Thomas¹, Jonathan Zippin², Brian P Brooks³

Book Editors

Margaret P Adam, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya

Affiliations

¹ Ulverscroft Eye Unit, College of Life Sciences, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK
² Department of Dermatology, Joan and Sanford I Weill Medical College of Cornell University, New York, New York
³ Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland

PMID: 37053367
Bookshelf ID: NBK590568

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding oculocutaneous albinism and ocular albinism, and their genetic causes, management, and genetic counseling.

The following are the goals of this overview.

Goal 1: Briefly describe the clinical characteristics of oculocutaneous albinism and ocular albinism.

Goal 2: Review the genetic causes of oculocutaneous albinism and ocular albinism.

Goal 3: Review the differential diagnosis of oculocutaneous albinism and ocular albinism with a focus on genetic conditions.

Goal 4: Provide an evaluation strategy to identify the genetic cause of oculocutaneous albinism or ocular albinism in a proband (when possible).

Goal 5: Inform genetic counseling of an individual with oculocutaneous albinism or ocular albinism and their family members.

Goal 6: Review management of oculocutaneous albinism and ocular albinism.

Sections

Publication types

Review