Role of Conjunctival Biopsy in the diagnosis of Marfan Syndrome

$15,000 funded by CMA

Dr. Alex Levin

Department of Ophthalmology, The Hospital for Sick Children, Toronto


Immunohistochemical Evaluation of Conjunctival Fibrillin-1 in Marfan Syndrome
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
Archives of Ophthalmology, 2006;124:205-209.

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

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.

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.

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.