Impaired development of lens fibers in genetic microphthalmia, eye lens obsolescence, Elo, of the mouse

An autosomal dominant microphthalmia (Eye lens obsolescnece, Elo) in the mouse was examined for early pathological changes in the developing lens. The first change was detected on day 12 of gestation, i.e. elongation of the central lens fibers at the basal cytoplasm was impaired. Necrotic cells were found among the central fiber cells, these cells never reached full maturation length and progressively degenerated thereafter. As a consequence, the lens in the late fetal stage was small and deformed. Initial cytological changes of this mutant were the appearance of numerous lysosomal bodies and the destruction of mitochondria at the basal cytoplasm of the lens fibers, and nuclei with dilated perinuclear cisterna. Swelling of lens fibers, known as the earliest catalytic changes, was not observed in this mutant. The impairment of fiber elongation concomitant with the destruction of mitochondria at the basal cytoplasms was characteristic of this mutant. A possible cause for the lens maldevelopment in this mutant was discussed.