Anophthalmia

Anophthalmia refers to a complete absence of ocular development. It is often considered to represent the most severe form of microphthalmia.

Pathology

Anophthalmia can occur in three situations:

• primary anophthalmia: complete absence of eye tissue due to a failure of the part of the brain that forms the eye

  • occurs from arrested development of the eyes in the early 4th week of gestation ⁶

  • rare: 0.18-0.4 cases per 10,000 births ⁶

• secondary anophthalmia: there is initial eye development which halts for some reason leaving behind only residual eye tissue or extremely small eyes which can only be seen under close examination

  • occurs from in utero events ⁶

• degenerative anophthalmia: there is initial ocular development but again for some reason starts to degenerate - possibly from lack of blood supply to the eye

Associations

Recognized associations are many and include:

• trisomy 13

• trisomy 18 ⁶

• Lenz syndrome ⁵

• Goldenhar-Gorlin syndrome ⁵

• Waardenburg syndrome ¹

• CHARGE syndrome ⁶

History and etymology

It derives from the Greek word: ανόφθαλμος (anophthalmos) meaning "without eye".