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In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three genes, <jats:italic>RDH5, RLBP1<\/jats:italic> and <jats:italic>RPE65,<\/jats:italic> were screened by direct sequencing. Mutations in <jats:italic>RDH5<\/jats:italic> were identified in three families and mutations in <jats:italic>RPE65<\/jats:italic> were identified in one family. This is the second reported case of FA caused by mutations in <jats:italic>RPE65<\/jats:italic>.<\/jats:p>","DOI":"10.1038\/srep46285","type":"journal-article","created":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T09:48:10Z","timestamp":1491817690000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus"],"prefix":"10.1038","volume":"7","author":[{"given":"Guoxing","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiqiang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shipeng","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengquan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Lv","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minglian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jialiang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,4,10]]},"reference":[{"key":"BFsrep46285_CR1","first-page":"133","volume":"48","author":"H Lauber","year":"1910","unstructured":"Lauber, H. 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