Early-Onset Glaucoma in Mice Homozygous for Mutation.

Mutations in cause Axenfeld-Rieger syndrome, with congenital glaucoma as an ocular feature. The mouse strain carries a chemically induced mutation and develops early-onset glaucoma. In this study, we characterized the glaucomatous features in mice. The eyes of and C57BL/6J control mice were assessed by slit lamp examination, total aqueous humor outflow facility, intraocular pressure (IOP) measurement, pattern electroretinography (PERG) recording, and histologic and immunohistochemistry assessment beginning at 3 weeks and up to 12 months of age. The mice developed elevated IOP as early as 4 weeks old. The IOP elevation was variable and asymmetric within and between the animals. The aqueous humor outflow facility was significantly reduced in 12-month-old animals. PERG detected a decreased response at 2 weeks after the development of IOP elevation. Retinal ganglion cell (RGC) loss was detected after 8 weeks of IOP elevation. Slit lamp and histologic evaluation revealed corneal opacity, iridocorneal adhesions (anterior synechiae), and ciliary body atrophy in mice. Immunohistochemistry assessment demonstrated glial cell activation and RGC axonal injury in response to IOP elevation. These results show that the eyes of mice exhibit anterior segment dysgenesis and early-onset glaucoma. The mouse strain may represent a useful model for the study of congenital glaucoma.