A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms

PURPOSE: To determine whether a mutation in the RP1-like protein 1 (RP1L1) gene is present in a Japanese patient with sporadic occult macular dystrophy (OMD) and to examine the characteristics of focal macular electroretinograms (ERGs) of the patient with genetically identified OMD. METHODS: An indi...

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Detalles Bibliográficos
Autores principales: Kabuto, Takenori, Takahashi, Hisatomo, Goto-Fukuura, Yoko, Igarashi, Tsutomu, Akahori, Masakazu, Kameya, Shuhei, Iwata, Takeshi, Mizota, Atsushi, Yamaki, Kunihiko, Miyake, Yozo, Takahashi, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351429/
https://www.ncbi.nlm.nih.gov/pubmed/22605915

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