Anophthalmia

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

Pathology

It can occur in three different 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".