Anophthalmia and microphthalmia
2007
Understanding Anophthalmia and Microphthalmia
publication
Author Information
Author(s): Amit S Verma, David R FitzPatrick
Primary Institution: MRC Human Genetics Unit, Edinburgh, UK
Conclusion
Anophthalmia and microphthalmia are complex conditions with various genetic and environmental causes, and their management requires a multidisciplinary approach.
Supporting Evidence
- The birth prevalence of anophthalmia and microphthalmia is estimated to be up to 30 per 100,000 population.
- Microphthalmia is reported in up to 11% of blind children.
- SOX2 is identified as a major causative gene for anophthalmia/microphthalmia.
Takeaway
Anophthalmia means no eye is present, while microphthalmia means the eye is very small. Both can happen for many reasons, including genetics and environmental factors.
Digital Object Identifier (DOI)
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