Journal of American Association for Pediatric Ophthalmology and Strabismus
Short ReportMultisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling
Section snippets
Case Report
A newborn boy presented at Flinders Medical Centre, South Australia, at 3 weeks of age for assessment of an abnormality noted in the right eye during the neonatal period. He was born at 40 weeks' gestational age by normal vaginal delivery after an uncomplicated pregnancy. On examination, the right eye was found to have a coloboma involving the iris, lens, and inferior retinochoroidal tissue, including the macula and optic disc, along with ectopia lentis (Figure 1). The left eye was normal in
Discussion
MFS is caused by mutations in FBN1 that result in increased transforming growth factor β (TGFβ) signaling. Increased TGFβ signaling is thought to underlie the myriad of connective tissue features of MFS. Recent work in the mouse model has suggested a role for increased TGFβ signaling in abnormal eye development, including coloboma formation.2
Nemet and colleagues1 described lens coloboma as a less common ocular feature of Marfan syndrome (MFS). Lens coloboma is thought to occur secondary to
Acknowledgments
The authors thank Ms. Angela Chappell, ophthalmic photographer, Flinders Medical Centre, for providing the clinical photographs.
References (9)
- et al.
Current concepts of ocular manifestations in Marfan syndrome
Surv Ophthalmol
(2006) - et al.
Sma- and Mad-related protein 7 (Smad7) is required for embryonic eye development in the mouse
J Biol Chem
(2013) The ocular pathology of Marfan's syndrome, including a clinicopathological correlation and an explanation of ectopia lentis
Arch Ophthalmol
(1966)- et al.
Une famille atteinte de colobomes iriso-choroidiens, d'heterochromie irienne et de syndrome de Marfan abortif
Ophthalmologica
(1964)
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