Sight Loss Services

Newsletter

-July 2007-


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HTRA1 Gene: Investigators Find Another Important Piece of the AMD Puzzle

Emergency Preparedness for People who are Blind and Visually Impaired

Yarmouthport Resident Receives Award

 

HTRA1 Gene: Investigators Find Another Important Piece of the AMD Puzzle

By Ben A. Shaberman

A recent study funded by the Foundation Fighting Blindness has determined that variations in the gene HTRA1 significantly increase the risk of age-related macular degeneration (AMD). The finding provides another piece to the complex puzzle of what causes people to develop AMD - a puzzle which includes multiple genetic and environmental risk factors.
The study was conducted by a collaborative team led by Kang Zhang, M.D., Ph.D., of the FFB-funded Michael M. Wynn Research Center for the Study of Retinal Degeneration, Moran Eye Center, University of Utah School of Medicine.
In the study of 751 individuals in Utah, Zhang and his colleagues attributed 49 percent of the cases of AMD to risk-increasing variations in the HTRA1 gene.
In a related study of 226 Chinese individuals in Hong Kong, Josephine Hoh, Ph.D., and her colleagues from Yale University attributed 86 percent of AMD cases to risk-increasing variations in HTRA1.
FFB-funded investigators have identified other genes such as CFH that increase AMD risk. Smoking has also shown to be a significant risk factor. Indications are that a diet high in processed baked goods can put people at greater risk, as well.
Scientists are finding that the more risk factors a person has – both genetic and environmental - the greater their chances of developing AMD. “We are discovering that these risk factors have a cumulative affect,” says Stephen Rose, Ph.D., Chief Research Officer, Foundation Fighting Blindness. “For example, studies are showing that risk increases many fold when someone smokes, and they have the genetic predisposition for AMD.”
Zhang and other experts have recently uncovered new AMD genetic risk factors and each can independently increase the likelihood of developing AMD. In Zhang’s study of Utah participants, those people who had either the HTRA1 or the CFH risk-increasing variations were three times more likely to develop AMD than those who had no known genetic risk.
Zhang also showed, however, that for people who had both HTRA1 and CFH risk factors, their chances of developing AMD were as much as 30 times greater  than those with no genetic disposition.
The discovery of genetic risk factors is not only important in identifying people who are at risk, but they also provide clear targets for the development of preventive treatments. “There are exciting therapies in development that work by turning off genes,” says Rose. “If we can identify at-risk people through genetic testing, and turn off genes such as HTRA1 and/or CFH, we have a good chance of stopping AMD before they lose any vision.”         Foundation Fighting Blindness
                                                             January, 2007

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Emergency Preparedness for People who are Blind and Visually Impaired

The Emergency Kit

There are a number of things that you, as a visually impaired individual can do to prepare both yourself and your family in the event of a disaster. One of the easiest things you can do is assemble a supply kit with basic necessities for 72 hours. Supplies should be marked with large print, fluorescent tape or Braille.

1. Three days supply of water (one gallon per day per person).
2. Three days supply of non-perishable food (and can-opener). Examples are canned ready-to-eat food, crackers, boxed or canned juice, cereal, granola, trail mix. Be aware of salt content as it can make you thirsty. Check and replace your food supply every 6 months.
3. Battery operated radio (and extra batteries) The radio is the first source of information during an emergency.
4. Flashlight and plastic emergency whistle - Flashlights and whistles are imperative for visibility and signaling purporses. A human voice can only shout for a few minutes.
5. First Aid Kit - Make sure you are familiar with the contents and their placement in the kit.
6. Toiletries and change of clothing – Toothbrush, toothpaste, hairbrush, toilet paper and garbage bags with ties. Be sure to include a change of clothing and a sturdy pair of shoes.
7. Prescriptions and Assistive Devices - Make sure you not only have your medication but a separate sheet with the names and dosages as well as your doctor’s contact information. Also, include eye glasses, non-prescription meds and portable devices such as magnifiers, hearing aids, and communication devices.
8. Cane - Even if you have some useable vision or are a guide dog user, a cane can be essential for mobility to help maneuver around obstacles and negotiate and identify barriers.
9. Identification and Important Papers - It is a good idea to put photocopies of important documents in a plastic bag and an accessible (large print, Braille, or cassette) version of important numbers.
10. Pets or Service Animals - If you have a pet or service animal, make sure you have included food, water, bedding and a favorite toy. Also be certain that your service animal has appropriate identification.

Questions to address about your surroundings

Do you know what to do if you are away from your home i.e. work, vacation, etc? Where is the nearest exit? What will your family do if you are all separated? Who should you contact first?          (From the American Council of the Blind)
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Yarmouthport Resident Receives Award


Karl Deitmer of Yarmouthport was recently awarded the “Ambrose Addis Award” from Sight Loss Services for his outstanding volunteer services to members of the community who are visually impaired. For over 16 years, Karl has been an active volunteer and member of the Board of Directors for this agency, working diligently to raise money and improve the quality of life for the visually impaired community on the Cape and Islands.

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