A slc38a8 mouse model of FHONDA syndrome faithfully recapitulates the visual deficits of albinism without pigmentation defects
Ana Guardia, Almudena Fernández, Davide Seruggia, Virginie Chotard, Carla Sánchez‐Castillo, Oksana Kutsyr, Xavier Sánchez‐Sáez, Esther Zurita, Marta Cantero, Alexandra Rebsam, Nicolás Cuenca, Lluı́s Montoliu
The paper generates a mouse model of FHONDA syndrome with mutations in SLC38A8, showing normal pigmentation but visual deficits similar to albinism.
Investigative Ophthalmology & Visual Science · Oct 20, 2023Peer-reviewedNeuroscience