Article
A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.
Molecular vision - 1 Jan 2012
Kabuto Takenori, Takahashi Hisatomo, Goto-Fukuura Yoko, Igarashi Tsutomu, Akahori Masakazu, Kameya Shuhei, Iwata Takeshi, Mizota Atsushi, Yamaki Kunihiko, Miyake Yozo, Takahashi Hiroshi
Abstract excerpt
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 individual with OMD underwent detailed ophthalmic clinical evaluations including focal macular ERGs. Mutation screening...
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