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".