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Author: admin, 28.03.2014
It is a type of eye abnormality characterized by the absence of the iris (colored part of the eye). It follows the autosomal dominant inheritance pattern, meaning that a single copy of the defected gene in every cell can cause the condition. It is often associated with various ocular complications including amblyopia, nystagmus and buphthalmos.
The diagnostic test named slit lamp examination can be useful for detecting different eye abnormalities caused by the disease such as iris translucency, glaucoma and cataracts.
Serial renal ultrasound may be useful for detecting any iris abnormality in babies without any family history of this inherited type of iris hypoplasia. In some cases, a diagnostic test for detecting a kidney tumor may be necessary once Aniridia has been diagnosed. The differential diagnosis for the disorder should aim at confirming that the symptoms are not the result of the aforementioned conditions.
Patients are often prescribed to wear glasses or contact lenses because their eyes are often extremely sensitive of light due to the absence of the iris. Cataract removal surgeries are often performed to improve the vision of an individual with this condition. Individuals with this disorder require regular tests to detect any sign of cataract or glaucoma.
The statistics regarding the incidence of the disease may vary in different parts of the world. There are various foundations and support groups that help patients and their families to cope with this eye abnormality by providing useful guidance. Although Aniridia causes various eye abnormalities, vision problems and other health issues, patients can have a relatively normal life with proper management of the disease. Here are some pictures displaying the altered appearance of the eyes due to the absence of the irises. He or she might have Aniridia, a hereditary condition that impairs the vision among other symptoms.
This is a bilateral, hereditary and extreme form of hypoplasia of the iris that is generally present at birth (congenital). It occurs due to abnormality in the development of the eyes between the 12th and the 14th week of pregnancy. This gene is responsible for providing instructions for the production of a certain protein which helps in developing the eyes, spinal cord and brain (central nervous system) as well as the pancreas.
This multifunctional complex plays an important role in the regulation of tissues of various developmental genes. Mutations in the PAX6 gene can result in foveal hypoplasia and hypoplasia of iris.
In around two-thirds of all cases, the patients inherit a mutated gene from one parent who carries the altered gene. However, couples with a family history of the condition should consider genetic counseling and gene reviews before deciding to have a child. Genetic tests of chromosomes are sometimes useful for determining the possibility of kidney tumor. However, the associated conditions like corneal opacities, glaucoma and cataracts are treated to reduce the vision problems as much as possible.


Glasses and sunglasses are also helpful for protecting the eyes from other external injuries. Lifelong follow-up care is very important for these patients to maintain a reasonable visibility. On an average however, 1 out of every 50,000-100,000 people in the world is affected by this rare eye disorder. Get complete information about the disorder, including its causes, symptoms and possible treatment options. This protein also plays an important role in the development of the olfactory bulb (a specific brain cell group that helps to process the sensation of smelling) within the brain. One-third of the total cases of the condition are caused by new genetic mutations in people who do not have any history of this disease in their family.
Genetic testing can be helpful to understand the chances of having a child with this eye abnormality. Optical coherence tomography (OCT) or optical imagery are sometimes used for identifying symptoms of hypoplasia. An ophthalmologist keeps patients under constant observation for controlling the light sensitivity and maximizing visual functioning. Soft painted contact lenses may also be prescribed to some patients as they help to improve cosmesis, reduce glare and improve the vision of the affected eyes.
Various other surgical procedures can be used for treating the disorder including trabeculotomy, goniotomy, setons, cyclophotocoagulation, cyclocryotherapy and trabeculetomy. Ophthalmologists should keep patients under constant observation to detect the slightest symptoms of any more serious condition.
The visual prognosis is not usually positive in children suffering from bilateral optic nerve hypoplasia.
However, the eye abnormalities and vision problems are often present for their entire lives. The PAX6 protein regulates the functioning of other genes by attaching itself to some specific regions of the DNA. Various researches suggest that the PAX6 mutation may be the sole gene impairment that is responsible for this birth defect.
In some very rare instances (Gillespie Syndrome), it can be inherited in the autosomal recessive pattern. OCT is very useful imaging test for diagnosing this genetic disease; however, this test is very difficult to be performed in case where nystagmus (involuntary eye movement) is present. Recently, several cases of this disorder have been treated successfully with stem cell therapy.
High frequency UBM or ultrasound biomicroscopy examination has recently been found to be useful in displaying the absence of iris (hypoplasia) in infants with congenital glaucoma. Once a child is born, the protein is responsible for regulating several genes that contribute to the formation and maintenance of various eye structures.



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