OA Genetic Screening Now Available in US & Europe

Thanks in part to funding provided by the Vision of Children Foundation, American families can now be screened for the presence of one of the genes responsible for causing Ocular Albinism in children. This test is now offered by the Baylor College of Medicine in Houston, Texas.

This test, which uses a blood sample to determine the presence of the OA1 gene that causes most cases of Ocular Albinism, can determine whether a family is at risk of transmitting the gene to children, confirming difficult-to-diagnose cases, and providing pre-natal diagnosis (PND).

A similar test is also available for European families through the Laboratorio Biologia Molecolare Clinica in Milan, Italy.

The availability of these tests represents a major step forward in the fight against hereditary childhood blindness and vision disorders. Women in families where Ocular Albinism has been present can determine whether there is a risk of passing the condition onto their children. In addition, there may be health risks associated with some rare forms of albinism (Hermansky-Pudlak Syndrome or Chediak-Higashi Syndrome), so correct diagnosis helps ensure that individuals obtain proper medical attention. Ultimately, when gene-specific therapies are developed for OA and the various forms of OCA, correct diagnosis will be important.