6 research outputs found

    Differences in Neuroticism Between Patients with Glaucoma Who Have Discontinued Visits to Ophthalmologists and Those Who Make Regular Visits: Implications for Adherence to Topical Glaucoma Medications

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    <p><b>Article full text</b></p> <p><br></p> <p>The full text of this article can be found here<b>.</b> <a href="https://link.springer.com/article/10.1007/s40123-016-0059-1">https://link.springer.com/article/10.1007/s40123-016-0059-1</a></p><p></p> <p><br></p> <p><b>Provide enhanced content for this article</b></p> <p><br></p> <p>If you are an author of this publication and would like to provide additional enhanced content for your article then please contact <a href="http://www.medengine.com/Redeem/”mailto:[email protected]”"><b>[email protected]</b></a>.</p> <p><br></p> <p>The journal offers a range of additional features designed to increase visibility and readership. All features will be thoroughly peer reviewed to ensure the content is of the highest scientific standard and all features are marked as ‘peer reviewed’ to ensure readers are aware that the content has been reviewed to the same level as the articles they are being presented alongside. Moreover, all sponsorship and disclosure information is included to provide complete transparency and adherence to good publication practices. This ensures that however the content is reached the reader has a full understanding of its origin. No fees are charged for hosting additional open access content.</p> <p><br></p> <p>Other enhanced features include, but are not limited to:</p> <p><br></p> <p>• Slide decks</p> <p>• Videos and animations</p> <p>• Audio abstracts</p> <p>• Audio slides</p

    MOESM1 of Changes in corneal thickness following combined cataract and vitreous surgery

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    Additional file 1: Table S1. Degree of the anterior segment inflammation score before and after surgery

    Whole Exome Analysis Identifies Frequent <i>CNGA1</i> Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

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    <div><p>Objective</p><p>The purpose of this study was to investigate frequent disease-causing gene mutations in autosomal recessive retinitis pigmentosa (arRP) in the Japanese population.</p><p>Methods</p><p>In total, 99 Japanese patients with non-syndromic and unrelated arRP or sporadic RP (spRP) were recruited in this study and ophthalmic examinations were conducted for the diagnosis of RP. Among these patients, whole exome sequencing analysis of 30 RP patients and direct sequencing screening of all <i>CNGA1</i> exons of the other 69 RP patients were performed.</p><p>Results</p><p>Whole exome sequencing of 30 arRP/spRP patients identified disease-causing gene mutations of <i>CNGA1</i> (four patients), <i>EYS</i> (three patients) and <i>SAG</i> (one patient) in eight patients and potential disease-causing gene variants of <i>USH2A</i> (two patients), <i>EYS</i> (one patient), <i>TULP1</i> (one patient) and <i>C2orf71</i> (one patient) in five patients. Screening of an additional 69 arRP/spRP patients for the <i>CNGA1</i> gene mutation revealed one patient with a homozygous mutation.</p><p>Conclusions</p><p>This is the first identification of <i>CNGA1</i> mutations in arRP Japanese patients. The frequency of <i>CNGA1</i> gene mutation was 5.1% (5/99 patients). <i>CNGA1</i> mutations are one of the most frequent arRP-causing mutations in Japanese patients.</p></div

    Sequence data of all six identified <i>CNGA1</i> mutations in this study.

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    <p>A-1 to F-1 show the normal sequence data for the <i>CNGA1</i> gene. A-2 to F-2 show the sequence data for heterozygous <i>CNGA1</i> mutations (c.191delG, c.265delC, c.G860A, c.G1271A, c.1429delG and c.G2042C, respectively). A-3 and B-3 show the sequence data for homozygous <i>CNGA1</i> mutations (c.191delG and c.265delC).</p

    Pedigrees identified with arRP-causing mutations or potential arRP-causing variants.

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    <p>The solid squares (male) and circles (female) represent affected patients. The proband of each family is indicated by a black arrow. Unaffected family members are represented by white icons. The slash symbol indicates deceased individuals. The doubled line indicates consanguineous marriage. The generation number is shown on the left.</p
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