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Anuradha Ganesh, MD; Charles Smith, MD; Wilson Chan, MSc; Sheila Unger, MD; Nada Quercia, MSc; Maurice Godfrey, PhD; Stephen Kraft, MD; Raymond Buncic, MD; Alex Levin, MD

Arch Ophthalmol. 2006;124:205-209.

Objective  To evaluate status of conjunctival fibrillin-1 in patients with Marfan syndrome with ectopia lentis.

Methods  Frozen sections of conjunctiva from 6 patients with Marfan syndrome with ectopia lentis and from 15 age-matched control subjects were stained with mouse antihuman fibrillin-1 antibody, using an avidin biotin immunoperoxidase technique. The fibrillin-1 staining characteristics of conjunctiva were analyzed with the light microscope.

Results  All the fresh frozen sections of conjunctival samples from control subjects demonstrated a characteristic pattern of fibrillin-1 staining. We observed a woven network of thin fibrils of uniform thickness surrounding collagen bundles. The fresh frozen samples from patients with Marfan syndrome showed consistent qualitative differences in fibrillin-1 staining when compared with samples from control subjects. The fibrils were longer and straighter than normal, varied in caliber, and showed fewer tendencies to form a woven pattern.

Conclusions  Consistent, qualitative abnormalities in fibrillin-1 staining pattern can be seen in the conjunctiva of patients with Marfan syndrome with ectopia lentis. Conjunctival biopsy deserves further investigation as a diagnostic modality for Marfan syndrome in patients with ectopia lentis.

Author Affiliations: Department of Ophthalmology and Vision Science (Drs Ganesh, Kraft, Buncic, and Levin), Department of Pediatric Laboratory Medicine (Dr Smith and Mr Chan), Division of Clinical Genetics (Drs Unger and Levin and Ms Quercia), The Hospital for Sick Children, University of Toronto, Toronto, Ontario, and Munroe-Meyer Institute for Genetics, Nebraska Medical Center, Omaha (Dr Godfrey).
Dr Ganesh is currently with Sultan Qaboos University Hospital, Muscat, Oman.

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