Glaucoma Cell Biology Laboratory
Department of Ophthalmology and Visual Sciences

 

Animal Models of Glaucoma

 






Genetic characterization of glaucoma in animals could explain how the disease develops in humans


Our lab has been involved in a collaborative effort to identify the genetic cause of glaucoma in the Basset Hound. Glaucoma is relatively common in this breed, typically develops in adult animals and clinically resembles primary angle closure glaucoma. We are collaborating with breeders and veterinarians and have been able obtain DNA from two large pedigrees of Basset Hounds. In the pedigree pictured below, breeding of two affected dogs yielded only affected offspring strongly suggesting that the genetic defect acts in an autosomal recessive manner. More information on glaucoma in the Basset Hound can be found on this page.

Pedigree of Basset Hounds with Glaucoma

We have also identified a novel, spontaneously occurring animal model of human congenital or pediatric glaucoma in a pedigree of Siamese cats. The clinical findings in these animals are remarkably similar to those observed in human congenital glaucoma. Kittens invariably develop mild to moderate buphthalmos and moderate elevation of intraocular pressure. Other common findings include elongated ciliary processes, Haab’s striae and lens subluxation and cupping of the optic nerve head. Histochemical evaluation suggest that these cats fail to develop a well formed aqueous plexus (asterisk on panel B below) and that the iris remains partially attached (arrow).

Developmental abnormalities in the anterior segment of a cat

We determined that affected cats have a mutation in a gene called LTBP2 that causes a truncation of the encoded protein. Mutations in this gene have also been associated with congenital glaucoma in humans. The finding that defects in the same gene cause similar disease in both humans and cats solidifies the causative nature of these mutations. These cats also provide a large animal model for the development of treatment regimens for affected children. These findings will also enable cat breeders to identify breeder cats at risk of producing affected kittens. A manuscript detailing these findings has been published and can be viewed here. These cats are currently studied by collaborating researchers at the University of Wisconsin.

 

 

 

Glaucoma develops spontaneously in several species

 

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