Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.
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.
Ganesh
Anuradha
A
Department of Ophthalmology and Vision Science, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Smith
Charles
C
Chan
Wilson
W
Unger
Sheila
S
Quercia
Nada
N
Godfrey
Maurice
M
Kraft
Stephen
S
Buncic
Raymond
R
Levin
Alex
A
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D003228:Conjunctiva / Q000378:metabolism* / Q000473:pathology; D004479:Ectopia Lentis / Q000235:genetics / Q000378:metabolism*; D016326:Extracellular Matrix Proteins / Q000378:metabolism*; D005136:Eye Proteins / Q000378:metabolism*; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007124:Immunoenzyme Techniques; D008382:Marfan Syndrome / Q000235:genetics / Q000378:metabolism*; D008840:Microfilament Proteins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D054392:Adipokines
D016326:Extracellular Matrix Proteins; D005136:Eye Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines; C000605724:Fbn1 protein, mouse