David, Debby, & Liam

On June 5th, 2011, Zumba extraordinaire and mother, Debby Casher, held a Zumbathon at her local Zumba studio in Philadelphia. The event raised close to $2,000 for research the Vision for Tomorrow Foundation. Debby’s son, Liam, is four and has aniridia. Debby and her friends and family shimmied the day away in honor of Liam!

Their goal: Raise awareness and $50,000 to fund a sight-saving research project through the Vision For Tomorrow Foundation.

To learn more about this fundraising event, meet the SeeFit: Road2theCure team during their journey across the US or learn how you can help, visit www.SeeFit.org/Road2theCure

Haley

On March 29th, 2012, James & Erica Murphy held their first fundraiser benefitting the Vision For Tomorrow Foundation in honor of their daughter, Haley, who has aniridia.  The Adobe Cafe, a local restaurant in Philadelphia donated a portion of all proceeds from the evening to the Vision For Tomorrow.  In addition, the Murphy Family raised close to $2,000 for research!  Thank you to Haley’s parents, family and friends for supporting The Vision for Tomorrow Foundation!

Dr. Arlene V. Drack, M.D.

Genotype-Phenotype Correlations in Aniridia & The Role of PAX6 in Development of Fovea

In December of 2011, The Vision for Tomorrow Foundation granted a team led by Dr. Arlene V. Drack at the University of Iowa’s Institute for Vision Research $140,000 to study the relationship between PAX6 gene mutations (genotype) and how they physically present themselves (phenotype).  In addition, this team is studying the role that PAX6 plays in the development of the fovea.

Vision for Tomorrow Foundation selected the University of Iowa’s team based on their impeccable reputation and a history of being a leader in opthalmic research, specifically those related to genetic ophthalmic diseases and the fovea.   The project is currently underway.

• International Albinism Center
• Wikipedia’s Albinism Page
• Albinism’s Eye Conditions
• eMedicine Albinism Information
• Kid’s Health
• Skin Cancer Information

• Medical Information About Albinism Sub-Types

• Griscelli Syndrome Information
• Chediak-Hagashi Information
• HPS Information
• OCA1a
• OCA 1b
• OCA2
• OCA4
• HPS

Other Albinism-Related Groups

• Albinism Through the Eyes of Bianca
• NOAH
• UK Albinism Fellowship
• Albinism International
• Albinism Fellowship of Australia

Albinism in the Media

• Albinism in popular culture
• Skin Conditions in the media

**These links are provided for information only. Their listing on our site does not constitute an endorsement by The Vision for Tomorrow Foundation**

Links We Like

Where can I buy sunglasses for my child?  Where can I get a hat?  What books do you recommend?  Find links to these and other useful tips here!  To suggest additional links, please email helen@visionfortomorrow.org.

Julbo Looping Sunglasses for Babies

Sunday Afternoons Hats for Babies and Kids

Other Eye Problems Associated with AniridiaNystagmus. This disorder is characterized by an irregular, side-to-side involuntary eye movement that may be side-to-side, up and down or rotary. Although people with nystagmus do not sense that their eyes are moving, this disorder does make it more difficult to focus on visual details.

Strabismus. This is a muscle imbalance of the eye which leads to crossing of the eyes or a “lazy eye.” In esotropia, the eye turns inward. In exotropia, the eye turns outward. This is correctable with glasses, eye-patches and/or surgery.

Glaucoma. Glaucoma can be present at birth (congenital glaucoma), but it typically arises after the teenage years in aniridics. Normally, a clear fluid, called the aqueous humor, provides nutrients to and carries waste products away from the lens and cornea. This fluid flows from behind the iris through the pupil and into the front (anterior) chamber of the eye, where it drains from the eye through a network of tissue called the trabecular meshwork. In glaucoma, this flow is disrupted, causing a build-up of fluid and, consequently, a build-up of pressure within the eye. There are 2 types of glaucoma, open-angle and closed-angle. Either type can develop in the aniridic. Open angle glaucoma occurs from an absent or dysfunctional aqueous drainage system. Closed-angle glaucoma occurs from a blockage of the iris tissue over the trabecular meshwork. The danger of glaucoma is due to the increase in intraocular pressure (IOP). This increased pressure causes the nerve fibers of the optic nerve to die, which in turn slows down and eventually stops the signals from the eye to the brain. Therefore, it is vital that the pressure within the eye of aniridics be closely monitored. There are many options for monitoring eye pressure and it is important that this be done at every ophthalmology appointment – including the very first one. For a small child with aniridia, sedation may be necessary and the exam may be performed in the operating room. Such a procedure is called an Examine Under Anesthesia or “EUA.” Typically, a reading of 20 or less is considered “normal.” A reading of greater than 20 could mean that glaucoma is present and a glaucoma specialist should be consulted. After the child reaches the age of three or four (depending on the child’s disposition), the pressure readings can be performed in the ophthalmologist’s office. Typically, a Tonopen is used to measure the pressure, although there are other instruments that can be used.

There is currently no cure for aniridia. However, there are some treatment options available:

1. Glaucoma:
   Frequent eye examinations are very important for those with aniridia to monitor for glaucoma. Increased eye pressures in glaucoma can be managed by eye drops and surgeries. There are many types of eye drops on the market to help lower eye pressure. There are also many surgical options including a trabeculectomy, trabeculotomy, laser surgery and shunt implantations. A trabeculectomy is a surgical procedure in which the trabecular meshwork is opened up, allowing the aqueous humor to drain more easily. This operation can be performed several times in different areas of the meshwork. A trabeculotomy is a more invasive procedure in which a new drainage angle is made to allow the aqueous humor to drain more effectively. Although this is an outpatient surgery, the eye must be monitored by the surgeon on a daily basis for at least two weeks. Another surgical option is laser surgery, where a laser is used to destroy the ciliary body, which produces the aqueous humor. This slows down the inflow of the fluid thereby reducing eye pressure. When these measures fail, a glaucoma surgeon can surgically insert a shunt (there are several different kinds) which is implanted into the front (anterior) chamber. Because aniridics have a risk for aniridia fibrosis (see below), any implantation procedure should be carefully monitored.
Lack of Iris
The lack of iris can be corrected with an iris implantation surgery, although it is not yet approved by the FDA. This can help control the amount of light entering the eye. Some aniridics have been successful with the iris implant operation. Others have had problems associated with the implant, specifically “aniridia fibrosis.” Aniridia fibrosis means a fibrotic tissue forms in the anterior chamber. The hypothesis is that this fibrotic tissue is formed because implanted devices are near or touching immature vessels. Such a condition is NOT always present with implanted devices in aniridic patients; however, it certainly should be monitored. Should the fibrosis become present, early surgical intervention is recommended.
2. Corneal Pannus
   For corneal pannus, stem cell transplants can be performed to refresh the cornea and prevent further scarring. If the scarring has been very pervasive (a stem cell transplant was not performed during the early onset of the growing pannus), a corneal transplant can be performed to clear the cornea.
3. Cataracts
   For cataracts, the lens can be removed and either a contact lens can be used or a lens can be surgically inserted into the eye. Most ophthalmologists do not recommend contact lens usage on aniridic patients because of cornea sensitivity. However, implanted devices within the aniridic eye can lead to aniridia fibrosis as described above