Skip to content

Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted.
The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov.
Updates regarding government operating status and resumption of normal operations can be found at OPM.gov.

LSU Health New Orleans Discovers Drug Development Target for Retinal Dystrophies

December 1, 2020
Genetics Leber Congenital Amaurosis Retina
Basic Research
Grantee
Images of retina with single photoreceptor versus retina with many photoreceptors

Removal of FATP4 saves cone photoreceptors in mouse retina. Image credit: LSU Health

A team of LSU Health New Orleans researchers reports for the first time that deleting one of the inhibitors of the RPE65 gene in a mouse model that carries a human disease mutation prevents degeneration of cone photoreceptors that are used for daytime high-resolution color vision. Their findings are published in PNAS.

Previously, the researchers identified three inhibitors of RPE65. The one involved in the current study is called fatty acid transport protein 4 (FATP4). They found that the survival of cone photoreceptors is increased nearly 10-fold in the mouse model of LCA lacking FATP4 in the retina. They also discovered that partial reduction of FATP4 in the retina can improve the survival and visual function of cone photoreceptors. These findings establish FATP4 as a promising therapeutic target to preserve daytime color vision in patients.