Contributor: Gordon K. Klintworth
Anophthalmos (anophthalmia) may be primary [anophthalmos - primary] or secondary [anophthalmos - secondary]. True primary anophthalmia is very rare and occurs in the 3rd or 4th week of embryogenesis from a failure of the optic primordium. Either no optic anlagen or a limited ocular primordium is established and fails to grow. Some types of anophthalmos are inherited disorders with an autosomal dominant [anophthalmos - autosomal dominant], autosomal recessive [anophthalmos - autosomal recessive] and X-linked [anophthalmos - X-linked].
Anophthalmia can only be diagnosed histopathologically by serial sectioning the orbital tissues and not finding finding any rudiments of the neuroectoderm of the optic cup in the orbit. More often orbits without apparent eyes contains microphthalmic globes. Such clinical anophthalmia may have autosomal recessive, autosomal dominant, and X-linked patterns of inheritance. It also occurs in a variety of syndromes and can be produced experimentally by radiation to the developing embryo and other techniques. Rarely clinical anophthalmia has been associated with esophageal atresia in several rare families. Anophthalmia may be bilateral; in other cases it is unlateral and accompanied by unilateral microphthalmos. Rarely clinical anophthalmia has been associated with esophageal atresia [anophthalmia and esophageal atresia]