Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.
Details
Serval ID
serval:BIB_3BED829AD0FE
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.
Journal
Archives of Ophthalmology
ISSN
0003-9950 (Print)
ISSN-L
0003-9950
Publication state
Published
Issued date
2006
Peer-reviewed
Oui
Volume
124
Number
2
Pages
205-209
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Abstract
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.
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.
Keywords
Adolescent, Adult, Biopsy, Conjunctiva/metabolism, Conjunctiva/pathology, Ectopia Lentis/genetics, Ectopia Lentis/metabolism, Extracellular Matrix Proteins/metabolism, Eye Proteins/metabolism, Humans, Immunoenzyme Techniques, Marfan Syndrome/genetics, Marfan Syndrome/metabolism, Microfilament Proteins/genetics, Microfilament Proteins/metabolism, Mutation
Pubmed
Web of science
Open Access
Yes
Create date
20/06/2015 13:04
Last modification date
20/08/2019 14:32
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