Micropthalmia
Microphthalmia also referred to as microphthalmos, nanophthalmia or nanophthalmos, is a developmental disorder of the eye that literally means 'small eye'. One (Unilateral Microphthalmia) or both (Bilateral Microphthalmia) eyes may be involved.
Presentation
The presence of a small eye within the orbit can be a normal incidental finding but in most cases it is abnormal and results in blindness. The incidence is 14 per 100,000 and the condition affects 3-11% of blind children.
Causes
- Fetal Alchohol Syndrome
- Infections during Pregnancy, including Herpes Simplex Virus and Rubella
- Genetic Causes
How genes result in the eye disorder is unknown but it has been postulated that interference with the process of eye growth after birth may be involved in contrast to anophthalmia (absence of eye ball) which originates much earlier during foetal development. SOX2 has been implicated in a substantial number (10-15%) of cases and in many other cases failure to develop the ocular lens often results in microphthamia.
Helpful Links
Parent Support group for parents with Anophthalmic and Microphthalmic children
http://www.macs.org.uk/