Introduction:
Purpose:
To describe a mouse strain with hereditary cornealdystrophy (CD).
Methods:
Split lamp was used to observe the appearance of thecorneas. HE staining and transmission electron microscopy (TEM)were used to study the histological structure of corneas. Toexplore potential mutations with genes equivalent to human genes(eg TGFBI) whose mutations cause CD in human, genomic DNA andcDNA of corneas were amplified using PCR and sequenced fromboth ends.
Results:
Balb/c mice, 8 weeks and of both sex, were purchasedfrom vender originally as normal mice but all were found tohave an opacity area in each cornea at the middle of corneacenter and inner limbus (Figure 1). Inbreeding showed that thisdisease is hereditary, starts at age of 5 weeks and progresscontinuously till about half of cornea is covered with the opacityof turtle back appearance seen in Central Cloudy CD in human.HE staining showed rupture of corneal structure involving mostlayers of the cornea at late stage. TEM showed neovascular capillariesand inflammatory cells in the space between the basis of epitheliumand Bowman's membrane, later of which is thickened or broken.Large amount of neovascular vessels, macrophages and erythrocyteswere observed (NV, M, * in Figure 2). Fibers in stroma are distorted.DNA sequencing revealed no mutations with TGFBI cDNA, but 6single nucleotide mutations, one triplet mutation and one nucleotidedeletion in the 100 base range of 3 downstream of exon 7 ofTGFBI genome in diseased mice.
Conclusions:
The described mouse strain hosts CD and might beused as animal model for study of pathogenicity and experimentaltherapy of this disease.
Keywords: cornea: basic science • genetics • pathology: experimental