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Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome

Purpose: Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 ( (FBN1). In addition to typical phenotypes such as ectopia lentis (EL) and aortic dilation, patients with MFS are prone to ocular posterior segment abnormalities, including retinal detachment (RD),...

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Principais autores: Yan Liu, BM, Yuqiao Ju, MM, Tian-hui Chen, MM, Yong-xiang Jiang, MD, PhD
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2024-09-01
Serier:Ophthalmology Science
Fag:
FBN1
Genotype-phenotype correlation
Maculopathy
TGF-β regulating sequence
Online adgang:http://www.sciencedirect.com/science/article/pii/S2666914524000629
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