What is anophthalmia/Mircophthalmia?
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(A/M) (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.
A/M 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.
A/M can be congenital (present at birth) or acquired later in life. A/M can occur alone or along with other birth defects. A/M may result from inherited genetic mutations, sporadic genetic mutations, chromosome abnormalities, prenatal environmental insult or other unknown factors.
Microphthalmia (microphthalmos) is a congenital condition in which the eye(s) started to form during pregnancy but for some reason stopped, leaving the infant with small eye(s). The size of the eye can vary from child to child. If very mild, it can almost go unnoticed, but usually it is fairly obvious. At the other end of the scale there is extreme microphthalmia, which is almost the same as anophthalmia.
Complex Microphthalmos denotes an eye that is small and that has been found to have additional eye findings. These include cataract (clouding of the lens), coloboma (absence of a portion of a structure of the eye such as the iris, retina, and/or optic nerve), and orbital cyst. The degree of vision is dependent on the extent and location of the associated eye findings.
Microphthalmia, anophthalmia and coloboma are on a spectrum of eye abnormalities often referred to as MAC.
Has your child been diagnosed with SOX2 Syndrome?
Help us learn more about SOX2 so we can provide better care and information.
SOX2 syndrome is a relatively newly described syndrome. We have very little detailed or long-term information about what this disorder means for an individual who is diagnosed. We are starting a specific research project to collect detailed information on individuals of all ages with this syndrome in order to provide more specific guidance to families, doctors, therapists and educators. If your child has been diagnosed with SOX2 syndrome and you are willing to share medical records and clinical information please contact Adele Schneider using the information above.