假性剥脱综合征的遗传学
Genetics of pseudoexfoliation syndrome.
作者信息
Challa Pratap
机构信息
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina 27710, USA.
出版信息
Curr Opin Ophthalmol. 2009 Mar;20(2):88-91. doi: 10.1097/ICU.0b013e328320d86a.
PURPOSE OF REVIEW
Pseudoexfoliation syndrome (XFS) is a late-onset and complex disorder that is strongly associated with the development of glaucoma. The purpose of this review is to discuss the inheritance patterns and recent genetic advances in the study of this disorder.
RECENT FINDINGS
XFS has a strong familial association and recently, the lysyl oxidase-like 1 gene has been strongly associated with this disorder. This gene is involved in the synthesis and maintenance of elastic fibers and therefore has a strong biological rationale for being involved in this disorder. However, the exact relationship between lysyl oxidase-like 1 polymorphisms and the development of XFS has not been elucidated. Also, the value of genetic testing for this disorder has not been validated.
SUMMARY
XFS is an important risk factor for glaucoma and lysyl oxidase-like 1 polymorphisms are strongly associated with XFS. The mechanisms behind glaucoma development and the value of genetic testing are not clear and further study is needed.
综述目的
假性剥脱综合征（XFS）是一种迟发性复杂疾病，与青光眼的发生密切相关。本综述旨在探讨该疾病的遗传模式及近期遗传学研究进展。
最新发现
XFS具有很强的家族关联性，最近，赖氨酰氧化酶样1基因与该疾病紧密相关。该基因参与弹性纤维的合成与维持，因此从生物学角度来看，它与该疾病的关联具有充分的依据。然而，赖氨酰氧化酶样1基因多态性与XFS发生的确切关系尚未阐明。此外，针对该疾病的基因检测价值也未得到验证。
总结
XFS是青光眼的重要危险因素，赖氨酰氧化酶样1基因多态性与XFS密切相关。青光眼发生的机制以及基因检测的价值尚不清楚，仍需进一步研究。
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