Discovery of Congenital Blindness Gene in Zebrafish Could Provide Useful Model for Better Understanding of Inherited Blindness Disease (LCA) in Human Children

Newborns can be at risk of congenital blindness, presenting sight defects due to lesions or to genetic mutations in their genome. Among the latter, Leber congenital amaurosis -- or LCA -- is one of the most widespread causes of child blindness and accounts for nearly 5% of vision impairments overall. The syndrome can be genetically transmitted to a child when both parents possess at least one dysfunctional copy of a gene involved in eye development. However, the molecular mechanism behind the disease remains unclear. Now OIST researchers in the Developmental Neurobiology Unit at the Okinawa Institute and Technology (OIST) have exposed a similar syndrome in zebrafish, which are an excellent model for studying human diseases. From this research, published online on April 5, 2017 in Scientific Reports, scientists aim to unravel the causes behind the disease in zebrafish and therefore provide new leads for a treatment for human LCA. The open-access article is titled “Aipl1 Is Required for Cone Photoreceptor Function and Survival Through the Stability of Pde6c and Gc3 in Zebrafish.” LCA affect the retina, the thin layer of tissue at the back of the eye that detects light as well as differentiates colors and communicates the information to the brain via the optic nerve. A healthy retina usually features light-sensitive cells -- photoreceptors -- called cones and rods. Cones are specialized in bright environment and detect colors while rods are used in dim light but are monochrome, which is why we see in black and white at night. A person with LCA will display deformed or absent cones and rods, thus preventing the detection of light.
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