Through research funded by The Vision of Children Foundation, scientists at the UCLA Stein Eye Institute have discovered mutations in a second gene that can cause ocular albinism, helping to provide a better diagnosis for the disease.
Through the project — led by Dr. Alejandra Young, assistant project scientist at UCLA Stein Eye Institute — researchers analyzed DNA samples from 26 patients with ocular albinism who did not have mutations in their OA1 gene, and compared the samples to subjects without a personal or family history of the disorder.
From this process, researchers found a several mutations in the GNAI3 gene. Researchers believe their discovery will help provide a clearer understanding of the cause of ocular albinism and help scientists in helping to improve vision for the thousands of children with the disorder.
The study was recently published in the journal PLOS One.
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Source: The Vision of Children Foundation