Case #18 – Marfan Syndrome

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National Marfan Foundation. Hutchinson S, Furger A, Halliday D, Judge DP, Jefferson A, Dietz HC, Firth H, Handford PA. Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? Hum Mol Genet. 2003 Sep 15;12(18):2269-76. Epub 2003 Jul 22. Maumenee IH The eye in the

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References Coleman DJ, Franzen LA. Vitreous surgery pre-operative evaluation and prognostic value of ultrasonic display of vitreous hemorrhage. Arch Ophthalmol 1974;92:375-381. Sherman J. Ophthalmic ultrasonography. In: Terry JE, ed. Ocular disease -detection, diagnosis and treatment. Boston: Butterworth Publishers, 1984:539. Ferry AP. Lesions mistaken for malignant melanoma of the posterior uvea: a clinico-pathologic analysis of

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Jerome Sherman, OD, FAAO Jerome Sherman, O.D., is perhaps optometry's most prolific writer, publishing over 650 clinical articles, research manuscripts, book chapters and two CDs. He is senior author of three books that were published in 2007, and has delivered over three thousand lectures both nationally and internationally. He has served as a

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Comments and Conclusions In 1896, Marfan syndrome was first described by a French pediatrician, Antoine Marfan, in a case of a 5 year old girl with disproportionately long and thin arms, legs, fingers and toes.7 Marfan syndrome is now known to be an autosomal dominant disorder of connective tissue, caused by mutations in the FBN1

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B-scan for clinical differential diagnosis of solid mass vs. membrane If Solid Choroidal melanoma Choroidal nevus CHRPE Dense white w/ o pressure Other If Membrane Retinoschisis Retinal detachment Choroidal detachment Dense PVD

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Some clinical indications for B-scan ultrasound Inadequate view of the fundus Opaque media Poor dilation Dilation contra-indicated (pregnancy, etc.) Proptosis Possible metallic foreign body6 Adies Tonic pupils6 Blurred disc borders (buried drusen)

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Orbital Disorders An example of a rounded cystic tumor is shown in the above images. The patient was a 7-year old black male, with best-corrected visual acuity of 7/140 In the left eye. The left eye was also mlcrophthalmic (3-mm shorter than the right eye); mlcrocornea and an optic pit were

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Orbital Disorders The patient whose ultrasonogram is pictured to the left complained of reduced vision in her right eye for 3 to 4 years, with lid swelling for the last 2 to 3 years. Pupillary testing revealed a Marcus Gunn pupil in that eye. Motilities of the right eye were restricted in

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