Navigation Links
Genetic Testing Sheds Light on Degenerative Eye Disease

Genetic testing for eye disease is providing vital information about complex retinal diseases, especially when used to// confirm a clinician’s diagnosis.

In a newly published review of such tests that were conducted over a five-year period at the University of Michigan Kellogg Eye Center, scientists were able to confirm a clinician’s diagnosis in half of the cases. The testing took place in the laboratory of Radha Ayyagari, Ph.D., director of Kellogg’s Ophthalmic Molecular Diagnostic Laboratory.

In the February issue of Archives of Ophthalmology, Ayyagari and her colleagues report on 350 genetic tests conducted since 1999, when the U-M Ophthalmic Molecular Diagnostic Laboratory became one of the first laboratories in the nation to receive government approval for ophthalmic testing under the Clinical Laboratory Improvement Amendment (CLIA). For each test described in the current study, scientists analyzed one or more of eight genes known to cause diseases of the retina.

Of the 350 tests, 266 were performed to confirm a clinician’s diagnosis, by far the most common use of genetic testing for eye disease. Another 75 tests sought to determine whether an individual was a “carrier” of a disease, and nine tests were used to predict the likelihood that an individual with a family history of a given eye disease would go on to develop it.

Ayyagari’s team was able to determine the molecular basis of the disease in half of 266 tests conducted to confirm a diagnosis. These results are significant because many retinal diseases present similar symptoms, and it is sometimes difficult for even the most skilled specialist to distinguish one from the other. By comparing a patient’s DNA to known disease-causing genes, scientists deliver information needed to confirm or rule out a diagnosis. To date, scientists have identified over 130 genes associated with retinal disease, such as retinitis pigmentosa and macular degeneration.

The authors observe that genetic testing for eye disease is a relatively new and evolving practice. Says Ayyagari, “Molecular diagnostics does not replace the necessary expertise of the ophthalmologist; rather, it adds a new tool to the ophthalmologist’s diagnostic arsenal.”

The report describes one case in which parents with no family history of retinal degeneration requested genetic testing in hopes of revealing the specific nature of their son’s eye disease. They also wanted to know whether the younger son, who was experiencing more subtle symptoms, had the same disease or a milder vision problem due to a different disease. Testing revealed that both boys had two gene mutations linked to Stargardt’s macular degeneration, a blinding disease that begins in childhood.

Genetic counseling is a crucial part of the genetic testing process, particularly when the patient may face the possibility of blindness, says Ayyagari. The family needs to prepare for all possible test results, understand the implications of test results for the patient and other family members, and be aware of the limitations of genetic testing. If physicians do not have the time or skills to provide this background, Ayyagari urges them to refer their patients to genetic counselors.

The study also reported that a diagnosis could not be confirmed in 133 cases, or half the tests conducted to confirm a diagnosis. “It is very difficult for patients to understand that the test may not be definitive,” says Ayyagari. “Genetic testing may not always yield the firm facts we receive in other kinds of testing, such as blood tests for cholesterol levels.”

A related point of confusion is that an inconclusive result does not necessarily rule out a diagnosis for a given disease. Limitations still exist in technologies for genetic testing, explains Ayyagari. In addition, very slight genetic variations believed to be benign may have either a cumulative effect or may alter the way another gene functions. Finally, while there has been great progress, scientists have yet to identify all the genes that contribute to disease of the retina.

“Tomorrow we may discover a new gene that explains many of the previously inconclusive test reports,” says Ayyagari.

In a related paper in the same issue of Archives of Ophthalmology, Stephen Daiger, Ph.D., University of Texas Health Science Center, writes on the promise of genetic testing for eye disease. He says, “Across all of the categories of inherited retinopathy, careful screening of known disease genes leads to detection of pathogenic mutations in 25 percent to 90 percent of patients, an extraordinary accomplishment.”

It is to the patient’s advantage to have a molecular diagnosis on file, observes Ayyagari. “When treatments begin to emerge for these complex genetic diseases,” she says, “the individual’s genotype may determine whether a new treatment will be the one that works for that patient.”
br>Source-Newswise
SRM
'"/>




Related medicine news :

1. Genetic Dentistry: Your Dentist may be able to grow you a new set of Teeth.
2. Genetic influence in menopause
3. Genetics and cholesterol levels
4. Genetics helps in attacking cancer
5. Genetic disorder related with sleep patterns
6. Genetic innovation
7. Genetic tests for cancer
8. Genetic indicates memory
9. Genetic mutation to the fountain of youth discovered
10. Genetic differences found between Male and Female brains
11. Alcoholism Influenced By Both Genetics & Family Environment
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:12/7/2016)... ... , ... AlignLife clinics nationwide are giving back to their communities by collecting ... bountiful gifts wrapped tightly under a Christmas Tree. AlignLife hopes to spread the ... , In exchange for generous donations, customers will receive a gift in return. ...
(Date:12/7/2016)... ... 2016 (PRWEB) (PRWEB) December 07, 2016 , ... Man’s best ... Dermatitis Associated with Borrelia Infection” reveals that a condition similar to ... prestigious Journal of Veterinary Science & Medical Diagnosis. , Morgellons disease is an ...
(Date:12/7/2016)... ... December 07, 2016 , ... The Honolulu cosmetic ... redesigned website, which launched October 17, 2016, features comprehensive information regarding a wide ... layout. Visitors and patients can discover the latest clinical dermatology treatments for medical ...
(Date:12/7/2016)... ... December 07, 2016 , ... Delete® - Tattoo Removal and Laser ... Holiday Party Season. Save Up To 33% Off Botox® and Juvederm® Products Now Through ... Phoenix Valley with Delightful Deals on Botox® and Juvederm® just in time ...
(Date:12/7/2016)... ... December 07, 2016 , ... ... Campaign Winner in the Folio: Marketing Awards competition. Live From won in the ... in pioneering, inventive, and ultimately successful projects undertaken by the media industry’s most ...
Breaking Medicine News(10 mins):
(Date:12/7/2016)... ZIONA SCIENCE PARK , Israel ... company Kadimastem (TASE: KDST) announced today the signing of a memorandum ... between the companies. The synergy between the companies will assist in ... as a worldwide leader in innovative treatment for severe diseases in ... ...
(Date:12/7/2016)... 7, 2016  Organovo Holdings, Inc. (NASDAQ: ... focused on delivering scientific and medical breakthroughs using ... and Chief Executive Officer Keith Murphy ... December 14, 2016 at 1:00 p.m. Eastern Time ... yet familiar with the Company, an informational video ...
(Date:12/7/2016)... The global  blood screening ... USD 3.9 billion by 2024, based on a ... growth of the market is attributed to the ... by the market players. Demand for blood screening ... rising awareness about transfusion-transmitted diseases, and technological developments ...
Breaking Medicine Technology: