Grant funds study of genetic eye disease

The Vision of Children Foundation and the John W. Alden Trust have awarded Dr. Suzanne Roffler-Tarlov, professor of neuroscience, a $50,000 grant to study visual disorders caused by a lack of pigment in the retina.

Based in San Diego, Calif. the Vision of Children Foundation is dedicated to investigating the causes of genetic eye diseases, including ocular albinism and oculocutaneous albinism. Children born with these diseases lack pigment in the eyes and skin. This results in severe visual impairment, which can include legal blindness.

The Vision of Children Foundation sponsors research in the United States and Europe. This is the first time, however, that it has funded research in Boston, thanks to the matching grant with the John W. Alden Trust, a Boston organization that supports projects benefiting children who are blind, disabled or mentally or physically ill.

Roffler-Tarlov, in collaboration with Dr. Carol Mason at Columbia University, is investigating the amino acid, L-Dopa, in the retinal pigment pathway. The molecule may serve as a key link in the development of two parts of the retina, the neural retina and the retinal pigment epithelium. Without it, the eye may not develop normally, resulting in impaired vision.

“Thanks to the Vision of Children Foundation and the John W. Alden Trust, we have been able to continue with this critical research investigating pigment production in the eye. This has implications for not only albinism, but other related diseases, such as retinitis pigmentosa, which cause debilitating blindness,” said Roffler-Tarlov.