Purchase this article with an account.
R. Sui, H. Wei, B. Wang, J. Zhao; Clinical and Linkage Study of a Family with Simple Ectopia Lentis . Invest. Ophthalmol. Vis. Sci. 2003;44(13):802.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Purpose: A large family with simple ectopia lentis was investigated clinically and analyzed by linkage to markers in the region of FBN1, the gene related to Marfan syndrome. Methods: Anterior and posterior segment of the eyes, height, arm span and echocardiogram were examined for the family. The comparison was made between the affected and the unaffected members. Specific markers for the FBN1were selected for linkage study. Results: This is an anotosomal dominant trait in this family.No patient had clinical or echocardiographic abnormality. The FBN1 region was not excluded. Conclusions: More markers flank were needed to confirm the results. The ectopia lentis gene in this family is likely to be allelic to Marfan syndrome.
This PDF is available to Subscribers Only