A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects

PURPOSE: We aimed to generate and phenotype a mouse model of foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA), a rare disease associated with mutations in Slc38a8 that causes severe visual alterations similar to albinism without affecting pigmentation. MET...

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Detalles Bibliográficos
Autores principales: Guardia, Ana, Fernández, Almudena, Seruggia, Davide, Chotard, Virginie, Sánchez-Castillo, Carla, Kutsyr, Oksana, Sánchez-Sáez, Xavier, Zurita, Esther, Cantero, Marta, Rebsam, Alexandra, Cuenca, Nicolás, Montoliu, Lluís
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10599165/
https://www.ncbi.nlm.nih.gov/pubmed/37862028
http://dx.doi.org/10.1167/iovs.64.13.32

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