Article
Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).
Optometry and vision science : official publication of the American Academy of Optometry - 1 May 2012
Hayashi Takaaki, Gekka Tamaki, Kozaki Kenichi, Ohkuma Yasuhiro, Tanaka Isako, Yamada Hisashi, Tsuneoka Hiroshi
Abstract excerpt
PURPOSE: To characterize clinical features in occult macular dystrophy (OMD) patients with the RP1L1 gene mutation (p.R45W), one of two previously described mutations in Japanese OMD patients. METHODS: Mutational screening of the RP1L1 gene was performed via polymerase chain reaction and direct sequencing for seven unrelated probands (one autosomal dominant and six sporadic probands) with OMD. A comprehensive...
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