title: Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling.
abstract: 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.
authors.affiliation: Women's and Children's Hospital, Adelaide, South Australia, Australia.
authors.forename: Shannon K
authors.initials: SK
authors.lastname: LeBlanc
authors.affiliation: Flinders Eye Centre, Bedford Park, South Australia, Australia.
authors.forename: Deepa
authors.initials: D
authors.lastname: Taranath
authors.affiliation: Flinders Medical Centre, Bedford Park, South Australia, Australia.
authors.forename: Scott
authors.initials: S
authors.lastname: Morris
authors.affiliation: Women's and Children's Hospital, Adelaide, South Australia, Australia. Electronic address: christopher.barnett@health.sa.gov.au.
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Barnett
mesh_terms: D000328:Adult; D054119:Arachnodactyly / Q000175:diagnosis; D003103:Coloboma / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D000071837:Fibrillins; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D007908:Lens, Crystalline / Q000002:abnormalities*; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation; D009898:Optic Disk / Q000002:abnormalities*; D012160:Retina / Q000002:abnormalities*; D015398:Signal Transduction / Q000502:physiology*; D016212:Transforming Growth Factor beta / Q000378:metabolism*
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins; D016212:Transforming Growth Factor beta