Amit V Mishra, Rosanna Martens, Carolin Aizouki, Alina Radziwon, Ian M MacDonald
{"title":"Inferior sectoral chorioretinopathy in two patients with novel heterozygous <i>KIF11</i> mutations.","authors":"Amit V Mishra, Rosanna Martens, Carolin Aizouki, Alina Radziwon, Ian M MacDonald","doi":"10.1080/13816810.2025.2450456","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Pathogenic variants in <i>KIF11</i>, a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.</p><p><strong>Cases: </strong>We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel <i>KIF11</i> mutations. Both patients have relatively good central vision similar inferior lacunae of retinal atrophy with relative sparing of the foveal center with.</p><p><strong>Conclusion: </strong>Two cases with classic features of MCLMR have foveal sparing that expands the associated spectrum of ocular findings.</p>","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-4"},"PeriodicalIF":1.2000,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13816810.2025.2450456","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Pathogenic variants in KIF11, a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.
Cases: We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel KIF11 mutations. Both patients have relatively good central vision similar inferior lacunae of retinal atrophy with relative sparing of the foveal center with.
Conclusion: Two cases with classic features of MCLMR have foveal sparing that expands the associated spectrum of ocular findings.
期刊介绍：
Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
