2014
DOI: 10.1016/j.jaapos.2013.10.017
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Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling

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Cited by 6 publications
(7 citation statements)
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“…Apart from ocular defects, lens coloboma might be one of the manifestations of systemic diseases, including Marfan syndrome and Marshall syndrome 4–6. Several case reports have shown the association between Marfan syndrome and lens coloboma, and it is postulated that increased transforming growth factor β might be the link behind this 5. In our case, the patient had lens coloboma without an accompanying congenital cataract, and no other systemic diseases were noted.…”
Section: Discussionmentioning
confidence: 45%
“…Apart from ocular defects, lens coloboma might be one of the manifestations of systemic diseases, including Marfan syndrome and Marshall syndrome 4–6. Several case reports have shown the association between Marfan syndrome and lens coloboma, and it is postulated that increased transforming growth factor β might be the link behind this 5. In our case, the patient had lens coloboma without an accompanying congenital cataract, and no other systemic diseases were noted.…”
Section: Discussionmentioning
confidence: 45%
“…[9][10][11] Other reports failed to mention the genetic mutation observed or the presence of aortic root dilation. 12 Thus, to our knowledge, this report describes the first case of infantile aortic root dilatation in classical MFS.…”
Section: Discussionmentioning
confidence: 68%
“…Lens coloboma has been associated with Marfan syndrome in many case reports in the literature. The elevated levels of transforming growth factor β might be responsible for this [ 5 ]. In the presenting case, there was unilateral lens coloboma in the right eye with congenital cataract leading to amblyopia.…”
Section: Discussionmentioning
confidence: 99%