Anophthalmia Classification and external resources ICD-10 Q11.0-Q11.1 ICD-9 743.0 DiseasesDB 29617 eMedicine oph/572
Anophthalmia, also known as anophthalmos (Greek: ανόφθαλμος, "without eye"), is the congenital absence of one or both eyes.
True or primary anophthalmos is very rare. Only when there is complete absence of the ocular tissue within the orbit can the diagnosis of true anophthalmos be made. Extreme microphthalmos is seen more commonly. In this condition, a very small globe is present within the orbital soft tissue, which is not visible on initial examination.
There are three classifications for this condition:
- Primary anophthalmia is a complete absence of eye tissue due to a failure of the part of the brain that forms the eye.
- Secondary anophthalmia the eye starts to develop and for some reason stops, leaving the infant with only residual eye tissue or extremely small eyes which can only be seen under close examination.
- Degenerative anophthalmia the eye started to form and, for some reason, degenerated. One reason for this occurring could be a lack of blood supply to the eye.
Causes and Types
Anophthalmia and microphthalmia may occur secondary to the arrest of development of the eye at various stages of growth of the optic vesicle. It is important to recognize microphthalmia because the development of the orbital region, as well as the lids and fornices, is dependent upon the presence of a normal-sized eye in utero. Anophthalmia is sometimes a clinical characteristic of Trisomy 13 (Patau syndrome) which is a Gross Chromosomal Abnormality.
TYPES: Consecutive anophthalmia, primary anophthalmia, and secondary anophthalmia.
Early treatment with various expanders or surgery, when necessary, will help decrease the orbital asymmetry and cosmetic deformities in these children.
- MAPS Parent Support group for parents with Anophthalmic and Microphthalmic children
- http://www.anophthalmia.org/ ICAN - International Children's Anophthalmia and Microphthalmia Network
- Anophthalmia and Microphthalmia Resource Guide from the National Eye Institute (NEI).
- GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
- MACS The Micro and Anophthalmic Children's Society - Offers support and Information to families in the UK and around the world
- ABC News video of Brielle Garrison, a young infant born with the condition.
Congenital malformations and deformations of eyes (Q10–Q15, 743) Adnexa GlobeEntire eyeAnterior segmentOther
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