Anophthalmia and Microphthalmia

Anophthalmia & Microphthalmia; Microphthalmia; Small Eye Syndrome

Microphthalmia means small eyes. In mammals the failure of expression of a transcription factor, MITF (microphthalmia-associated transcription factor), in the pigmented retina prevents this structure from fully differentiating. This in turn causes a malformation of the choroid fissure of the eye, resulting in the drainage of vitreous humor fluid. Without this fluid, the eye fails to enlarge, thus the name microphthalmia. [1] The gene encoding the microphthalmia-associated transcription facto ...