Clinical anophthalmos

Description

This refers to the clinical absence of one or both eyes. Both the globe (human eye) and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar prominence. Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia. Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities.

Inclusions

• Agenesis of eye
• Aplasia of eye

Exclusions from above levels

• LA05.2 – Holoprosencephaly with cyclopia or synophthalmia
• http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism