Microphthalmia/Anophthalmia is a condition characterized by faulty development of the eye, leading either to small eyes or the total absence of one or both of the eyes. In most cases, microphthalmia/anophthalmia is seen as part of a syndrome, in association with several other developmental defects. Isolated microphthalmia is a rare occurrence. The condition can range in severity from only slightly smaller than normal eyes, resulting in almost normal vision, to a complete absence of both eyes. Those affected with the milder form may develop long-sightedness, nystagmus, or strabismus. The etiology of the disease condition remains unclear. However, researchers have suggested that gestational acquired infections, maternal vitamin A deficiency and/or chemical or radiation exposure could be contributing factors.
The condition can be diagnosed both pre- and post-natally via ultrasound, CT, or MRI scanning. Other ocular conditions, such as cryptophthalmos, cyclopia, and congenital cystic eye, need to be considered for differential diagnoses. Management depends upon the severity of the condition. Mild to moderate microphthalmia can be managed conservatively. If only one eye is affected, patching of the better eye can encourage enhanced vision in the affected eye. More severe forms and anophthalmia require more extensive intervention in the form of implants, expanders, grafts, and soft tissue reconstruction.