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Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up

This case report presents a 26-year-old female patient diagnosed with fundus albipunctatus (FAP), a rare form of congenital stationary night blindness. The patient’s clinical history and retinal findings spanning 23 years are consistent with FAP. The patient has profound night blindness, photophobia...

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Detalles Bibliográficos
Autores principales: Tan, Wendy D., Odom, J. Vernon, Leys, Monique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672672/
https://www.ncbi.nlm.nih.gov/pubmed/38002575
http://dx.doi.org/10.3390/jcm12226960