Survey of genetic testing, community involvement, and vision care in Albinism.

ABSTRACT:

Background

Previous studies from Brazil and West Africa have shown that patients with albinism can feel stigmatized and isolated, highlighting the importance of access to healthcare and support in improving their quality of life. Studies in the United States are lacking.

Objectives

Our study aims to understand gaps in access to genetic testing, vision care, and community resources for patients with albinism.

Design

A survey was distributed on the National Organization for Albinism and Hypopigmentation (NOAH) website and during in-person research sessions at the Medical College of Wisconsin or emailed to previous research participants.

Methods

Multiple choice and open-ended questions were aimed at assessing access to resources, genetic testing, and vision health

SUBMITTER: Prokhoda P 

PROVIDER: S-EPMC12402588 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature