Anophthalmia

Last revised by Arlene Campos on 11 Jan 2024

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:

History and etymology

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

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