Why Aniridia is Important to Me


Aniridia is important to me because I have been diagnosed with sporadic Aniridia. Sporadic Aniridia means that none of my immediate or extended family has the eye disorder. I am the first person in my family to have the eye disorder.


Aniridia is not the worst eye disorder but it does come with its challenges. With every stage of life Aniridia has gave me additional challenges. Some of the challenges I will never be able to overcome but I try to keep a positive view. One of the biggest challenges that I have is not able to drive. In a positive way some of the challenges have made me more appreciative of things. I appreciate the small amount of vision I have because I could be completely blind.


Many people know about Aniridia but I would like to provide you with a complete understanding of Aniridia that pretains to me.

Structure of the Eye


The cornea, iris, pupil, and retina are different parts of the eye that I will be referencing in this article. This parts are not all the parts of the eye. This parts are important to the eye to insure clear and in focus vision. Your brain is also invovled in the processing of vision. However, in this article I will be focusing on the eye.


The human eye
The pupil is the central transparent area (showing as black). The grey/blue area surrounding it is the iris. The white outer area is the sclera, the central transparent part of which is the cornea.[2B]

On the front of the eye you have the cornea. The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber.[1] The cornea reflects light through your pupil that is located in the center of the iris.


The iris is the coloured circular part of the eye. The iris is responsible for controlling the pupil diameter size by regulating the light flow that goes through the pupil.[4} The pupil increases diameter size in the dark but decreases diameter size in light. The pupil is the hole that appears black in the center of the iris. The pupil appears black because light rays entering the pupil are absorbed by the tissues inside the eye. The pupil is responsible for controlling the amount of light that the retina receives by getting wider or narrower.[2A]


Behind the iris you have lens. The cornea and the lens focus the light that is coming into the eye onto an area at the back of the eye that is called retina.[5A] The retina is the third and inner coat of the eye which is a light-sensitive layer of tissue.[3A]


When the light reaches the retina it creates an image on the retina. Which serves much the same function as the film in a camera. Light striking the retina initiates a cascade of chemical and electrical events that ultimately trigger nerve impulses. These are sent to various visual centers of the brain through the fibers of the optic nerve.[3B] The brain is able to interpret these chemical and electrical signals into the images that we see. The eye and the brain together produce the images that we see. The communication between your eyes and brain is known as the visual system.[5B]


What is Aniridia


Normal Eye
Direct illumination of a normal eye with dark iris.[7A
Eye with Aniridia
Direct illumination of an eye with Aniridia.[7B]

Aniridia is a rare eye disorder or genetic condition that babies are born with. Aniridia can affect babies in different ways. Some babies that are diagnosed with Aniridia may have mild blurry eyesight and other babies may have a lot of sight loss. The level of loss of sight depends on what if any other parts of the eye were under developed or other eye condition has occured.[5C] When babies are diagnosed with Aniridia babies will have Aniridia for life. Currently there is no cure for Aniridia.


Aniridia means that the iris is missing or partial absence. The eye becomes sensitive to light when the pupils are in constant dilation causing the eye to become more sensitive and increases poor vision.[5D]


The middle of my eye is a black circle because I was born without an iris. I was diagnosed with Aniridia when I was about 4 years old. At the time my eyesight was 20/200. Normal vision is 20/20. 20/200 eyesight means that a person that can see an object at 200 feet, I would need to be at 20 feet to see the object. My Aniridia can be considered in the moderate level but my eyesight is declining. My corneas are becoming unregular wish causes blurry vision. I am also sensitive to light and I always wear sunglasses outside.


What Causes Aniridia


Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide.[6A] Most of the time Aniridia is caused by faulty gene that do not allow the complete development of the eye. The mutations of PAX6 gene causes Aniridia. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas.[6B] The disruption of the formation and development of the eye during embryonic development is caused by the lack of functional PAX6 protein. When the baby is born the eye is underdeveloped to some degree.


In approximately 2/3 of the time the faulty gene can be passed down from one parent or both parents wish makes it inherited. Aniridia can also be sporadic wish means that none of your parents have had the faulty gene. You are the first one to have the faulty gene. In approximately 1/3 of the time Aniridia is sporadic.[6C] Genetic testing can be done to determain if the person can contain the faulty gene that causes Aniridia. I never went through the process of genetic testing. Genetic testing is more common in Europen Countries. Here in the United States it is expensive and only few facilities avaliable.


Other Eye Conditions Be Linked To Aniridia


There are other eye conditions that can be linked to Aniridia. Due to having Aniridia I have the following eye symptoms or conditions. One symptom is dry eyes. Another symptom of having Aniridia is extreme glare. One of the conditions that happens because of the iris partial or completely missing is photophobic that means very sensitive to light.[8A]


Another eye condition is called Nystagmus. Nystagmus is a condition that your eyes involuntary move rapidly up and down or side to side. My nystagmus makes my eyes move rapidly side to side.


I have had few cataracts. Cataract is clouding of the normally transparent lens just behind the iris which can blur vision.[5E]


I have a hard time recognising faces and detail. This condition is called Fovea Hypoplasia. The fovea is the central part of the retina at the back of the eye. It is responsible for detailed vision which we use when reading, writing, or recognising someone's face across the road.[5F] I have mentioned to people that when they wave at me and I do not wave back it is not because I am ignoring them, it is because I can not see them. Many people have mentioned to me that they did not think I had vision problems.


People with aniridia may have a deficiency in the limbal stem cells. These are stem cells that arise in the limbus. The limbus is an area at the border of the conjunctiva, which is the thin translucent tissue over the white surface of the eye, and the cornea, the transparent dome-shaped tissue that forms the front part of your eye, through which you can see the colored iris. These stem cells are responsible for maintaining the health and integrity of the cornea.

As a result of a deficiency in the limbal stem cells, the conjunctiva can grow over the cornea, the cornea cannot heal easily from injuries or scratches, and the cornea ultimately can undergo scarring or vascularization (growth of abnormal blood vessels into the normally clear cornea). These corneal changes can impair vision.
[8B] Vascularization is the most resent eye condition that I have encountered. Vascularization and scarring of the cornea is the condition that has caused me to stop working. Even though doctors have scrapped the blood vessels off the cornea. My cornea has scarring and has become abnormal.


Living With Aniridia


Living with Aniridia you do need a lot of support from friends, family and people that you do not know. These people can be teachers, foundations, organizations that support Aniridia or just people that are walking down the street. There are low vision aids that do help day to day activities but nothing will replace your friends and family. I have been fortunate through life with great friends and family. They have provided me with all assistance that I have needed.