RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis. (2nd April 2016)

• Record Type: Journal Article
• Authors: Katagiri, Satoshi; Hayashi, Takaaki; Kondo, Mineo; Tsukitome, Hideyuki; Yoshitake, Kazutoshi; Akahori, Masakazu; Ikeo, Kazuho; Tsuneoka, Hiroshi; Iwata, Takeshi
• Is Part Of: Ophthalmic genetics. Volume 37:Number 2(2016)
• Page Start: 161
• Page End: 169
• Publication Date: 2016-04-02
• Subjects: Japanese -- Leber congenital amaurosis -- mutations -- RPE65 -- whole-exome sequencing; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2014.991931
• Languages: English
• ISSNs: 1381-6810

Abstract

Abstract: Purpose : To investigate genetic and clinical features of patients with Leber congenital amaurosis (LCA) caused by RPE65 mutations. Methods : Five Japanese families with LCA were recruited. We performed complete ophthalmic examinations, with optical coherence tomography, fundus autofluorescence imaging, and full-field electroretinography (ERG). Genetic analysis was performed with whole-exome sequencing analysis and Sanger sequencing. Results : We identified RPE65 mutations in two unrelated LCA patients from two families. Case 1: A 5-month-old girl was diagnosed with LCA because of nystagmus, loss of vision and non-recordable ERG. She was the only one affected in her non-consanguineous family, and exhibited novel compound heterozygous RPE65 mutations (c.177C>G, p.H59Q and c.183_184insT, p.D62X). Case 2: A 30-year-old woman, who had night blindness and poor ocular pursuit during the first year of life, exhibited severe retinal degeneration and non-recordable ERG. She was the only affected in her non-consanguineous family, and showed a homozygous RPE65 mutation (c.1543C>T, p.R515W). Conclusions : By using whole-exome sequencing analysis, three RPE65 mutations were identified in two Japanese patients with LCA. This approach would be useful for identification of disease-causing mutations of LCA.