Contributor: Gordon K. Klintworth
Anophthalmos (anophthalmia) may be primary [anophthalmos - primary] or secondary [amophthalmos - 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 ].

Secondary anophthalmia results from widespread failure of development of the anterior neural tube and is lethal as neither brain nor eyes result. The eyes arise from the diencephalon, caudal to the telencephalon on the neural tube. An ocular structure may be established and develop to some extent and then disintegrate (degenerative anophthalmia).

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. This anophthalmia with esophageal atresia (OMIM # 600992) has affected boys more often than girls (6:1). The anophthalmia and esophageal atresia may be the only apparent abnormalities, but in some cases other associated abnormalities have included vestigial optic nerves and chiasma, ectopc tissue in the hypothalamus, ventriculomegaly, cerebral atrophy, tracheoesophageal fistula, hypospadias, psychomotor delay and impaired hearing. The anophthalmia may be bilateral; in other cases it is unlateral and accompanied by unilateral microphthalmos.


Autosomal recessive anophthalmia is an inherited disorder in which an affected person is born without apprent eyes. 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. The 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.