Fuchs Endothelial Corneal Dystrophy: A Systematic Immunofluorescence Study of Collagen Type VIII Suggests Heterogeneous Pathophysiology.

Abstract

PURPOSE:

The purpose of this study was to investigate the pathophysiologic heterogeneity of Fuchs endothelial corneal dystrophy (FECD).

METHODS:

We conducted a systematic immunofluorescence study on 39 Descemet membrane samples from FECD patients and compared these with 10 Descemet membrane samples from patients with pseudophakic bullous keratopathy (PBK) and 7 normal corneas. Samples were analyzed with immunofluorescence using antibodies to the α1-chain [collagen VIII α1-chain (COL8A1)] and α2-chain (COL8A2). Intensity of staining was assessed using a subjective grading scale from 0 to 3. The presence of specific staining patterns was noted.

RESULTS:

The overall distribution of COL8A1 staining intensity between groups was significantly different (P = 0.002). There was marked/intense staining in 85% (33/39) of the FECD samples, 40% (4/10) of the PBK samples (P = 0.034), and 29% (2/7) of normal samples (P = 0.004). The overall distribution of COL8A2 staining intensity was not significantly different between groups (P = 0.39). There was marked/intense staining in 33% (13/39) of the FECD samples, 10% (1/10) of PBK samples, and 14% (1/7) of the normal samples. There was substantial variation in staining intensity in the FECD group, a phenomenon that was especially pronounced for the COL8A2 antibody.

CONCLUSIONS:

We found increased staining for COL8A1, but not COL8A2 in FECD samples. Further, there was striking variation of staining intensity in FECD patients, indicating pathophysiological heterogeneity.

• Authors: Esben Nielsen, Kim Nielsen, Anders Ivarsen, Nicholas S Greenhill, Paul F Davis, Jesper Hjortdal
• Journal: Cornea (Cornea) Vol. 35 Issue 6 Pg. 872-7 (Jun 2016) ISSN: 1536-4798 [Electronic] United States
• PMID: 27078008 (Publication Type: Journal Article)

Chemical References

• Biomarkers
• COL8A2 protein, human
• Collagen Type VIII

Topics

• Aged
• Aged, 80 and over
• Biomarkers (metabolism)
• Collagen Type VIII (metabolism)
• Descemet Membrane (metabolism)
• Female
• Fluorescent Antibody Technique, Indirect
• Fuchs' Endothelial Dystrophy (metabolism, physiopathology)
• Humans
• Male
• Middle Aged