Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.

doi:10.1007/s10384-016-0424-6

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Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.

Japanese journal of ophthalmology - 1 May 2016

Kuniyoshi Kazuki, Muraki-Oda Sanae, Ueyama Hisao, Toyoda Futoshi, Sakuramoto Hiroyuki, Ogita Hisakazu, Irifune Motohiro, Yamamoto Shuji, Nakao Akira, Tsunoda Kazushige, Iwata Takeshi, Ohji Masahito, Shimomura Yoshikazu

Abstract excerpt

PURPOSE: To present the characteristics and pathology of a patient with congenital achromatopsia. PATIENT AND METHODS: The patient was a 22-year-old Japanese woman who was 8 years old when she first visited our clinic. Comprehensive ophthalmic examinations including visual acuity measurements, perimetry, optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging, electroretinography (ERG), and...

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Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.

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