The Effects of Aniridia: A Genetic Eye Disorder

There are some people who are perceived to be demon-like or to be possessed simply because their eyes are predominately black and they look almost liquefied. When you come across people with eyes like this it definitely makes you take a double look. Although all of the supernatural shows on television make us wonder about these people the truth is they may be suffering from a genetic condition that causes the eye to be underdeveloped.

Aniridia is a rare genetic eye condition that is an extreme form of Iris Hypoplasia (the underdevelopment of the iris or colored part of the eye). Aniridia runs in families, you're born with it and it occurs in both eyes. The Greek meaning of Aniridia is "without iris".

Aniridia is caused by the Pax6 gene. This gene is responsible for eye development and when it doesn't function correctly the eye stops developing too early and this causes the baby to be born with underdeveloped eyes. Eyes that are affected by Aniridia look like the pupil is extremely large and the color of the eye can barely be seen. In rare cases the color of the eye (the iris) can't be seen at all.

Aniridia can result in cataracts (cloudy lens), glaucoma (optic nerve damage caused by increased eye pressure), nystagmus (wobbly eyes), aniridic keratopathy (major cause of vision loss in those with Aniridia), amblyopia (loss of vision in a non-dominant eye), micro cornea (small cornea), strabismus (cross eyes), dysosmia (impaired sense of smell), dysnomia (difficulty recalling individual words even though the meaning of the word is fully understood), glucose intolerance (a precursor to diabetes that has no physical signs), tumor in the kidney and light sensitivity. Aniridia does not always cause vision loss, but it is possible.

Aniridia can also be a symptom of serious conditions such as WAGR or Gillespie syndrome.

WAGR is a very rare genetic syndrome. WAGR is an acronym that stands for the most common features of the disorder which are Wilm's tumor, Aniridia, Genito-urinary anomalies and mental retardation. WAGR is also known as 11p depletion syndrome, chromosome 11p depletion syndrome, WAGR complex, Wilm's tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome and Wilm's Tumor-Aniridia-Gonadoblatoma-Mental Retardation Syndrome.

Gillespie Syndrome is a rare syndrome that is present from birth and affects both males and females. It is characterized by partial or complete Aniridia, aplasia (defective development that results in the absence of all or part of an organ) that involves only the papillary zone of the iris and congenital nonprogressive bilateral partial cerebellar ataxia (lack of muscle coordination during voluntary movements) with hypotonia (decreased muscle tone).

Aniridia is very rare and only occurs in approximately 1 in every 50,000 births. There's no treatment for Aniridia, but there are treatments that are available to help prevent the side-effects of the disorder.