Short Report
Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling

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Colobomata are etiologically heterogeneous and may occur as an isolated defect or as a feature of a variety of single-gene disorders, chromosomal syndromes, or malformation syndromes. Although not classically associated with Marfan syndrome, colobomata have been described in several reports of Marfan syndrome, typically involving the lens and rarely involving other ocular structures. While colobomata of the lens have been described in Marfan syndrome, there are very few reports of coloboma involving other ocular structures. We report a newborn boy presenting with coloboma of the iris, lens, retina, and optic disk who was subsequently diagnosed with Marfan syndrome. Marfan syndrome is a disorder of increased TGFβ signaling, and recent work in the mouse model suggests a role for TGFβ signaling in eye development and coloboma formation, suggesting a causal association between Marfan syndrome and coloboma.

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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.

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