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首页> 外文期刊>Progress in retinal and eye research >The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
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The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

机译：X-Linked视网膜病：生理洞察，致病机制，表型特征和新疗法

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摘要

X-linked retinopathies represent a significant proportion of monogenic retinal disease. They include progressive and stationary conditions, with and without syndromic features. Many are X-linked recessive, but several exhibit a phenotype in female carriers, which can help establish diagnosis and yield insights into disease mechanisms. The presence of affected carriers can misleadingly suggest autosomal dominant inheritance. Some disorders (such as RPGR-associated retinopathy) show diverse phenotypes from variants in the same gene and also highlight limitations of current genetic sequencing methods. X-linked disease frequently arises from loss of function, implying potential for benefit from gene replacement strategies. We review X-inactivation and X-linked inheritance, and explore burden of disease attributable to X-linked genes in our clinically and genetically characterised retinal disease cohort, finding correlation between gene transcript length and numbers of families.
机译：X连锁视网膜病变在单基因视网膜疾病中占很大比例。包括进行性和静止性疾病，有或无综合征特征。许多是X连锁隐性遗传，但有几个在女性携带者中表现出表型，这有助于建立诊断并深入了解疾病机制。感染携带者的存在可能误导性地暗示常染色体显性遗传。一些疾病（如RPGR相关视网膜病变）表现出来自同一基因变体的不同表型，也突出了当前基因测序方法的局限性。X连锁疾病通常由功能丧失引起，这意味着基因替代策略可能会带来益处。我们回顾了X-失活和X-连锁遗传，并在我们临床和遗传学特征的视网膜疾病队列中探讨了X-连锁基因的疾病负担，发现基因转录长度和家族数量之间的相关性。

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