What is anophthalmia?
Anophthalmia is a medical term that is used to describe the absence of the globe and ocular (eye) tissue from the orbit. The terms Anophthalmia and Microphthalmia (small eyes) are often used interchangeably since CT scans or MRI show some remnants of either the globe or surrounding tissue in most cases. Anophthalmia/Microphthalmia (A/M) may affect one eye with the other eye being normal, or both eyes, resulting in blindness. Anophthalmia is rare, but the exact incidence is unknown. One report from a prospective study of 50,000 newborns found an incidence of microphthalmia of 0.22 per 1,000 live births. In a recent study in England, the prevalence of anophthalmia and microphthalmia was 1.0 per 10,000 births. Anophthalmia can be congenital (present at birth) or acquired later in life. Congenital anophthalmia can occur alone or along with other birth defects. Anophthalmia may result from inherited genetic mutations, sporadic genetic mutations, chromosome abnormalities, prenatal environmen
