Microphthalmia is an abnormally small eye, while anophthalmia is apparent absence of an eye. Both arise from disrupted eye development in early pregnancy.
Features and associations
Severity ranges from mild size reduction to complete absence.
- Often associated with coloboma, cataract, or other ocular malformations
- May occur in isolation or as part of genetic or chromosomal syndromes
- Marked cosmetic and functional implications, especially when bilateral
- Imaging helps distinguish severe microphthalmia from true anophthalmia
Management
Care focuses on cosmesis, protection, and supporting development.
- Custom conformers and prosthetic eyes to stimulate socket and facial growth
- Visual stimulation and low-vision support where useful vision is present
- Genetic counselling and systemic evaluation for associated anomalies
- Psychological and social support for families
