HOME >> MEDICINE >> NEWS
University of Utah vision researchers identify genetic cause of rare eye disease in Utah family

Vision researchers at the University of Utah's John A. Moran Eye Center have discovered a gene mutation responsible for causing a rare disease in four generations of a single Utah family. The discovery is reported in a recent issue of The American Journal of Ophthalmology (November 2004).

The disease, which is informally being called Beehive Syndrome because of its connection to Utah (the Beehive State), causes both vision and hearing loss in patients. Officially, patients with the disease are described as suffering from optic atrophy (optic nerve degeneration), deafness, ptosis (drooping of the upper eyelid), and ophthalmoplegia (loss of eye movement).

The discovery of the gene mutation was made after researchers screened 30 members of a Utah family and found that 18 showed symptoms of the disease. Further study revealed that a single gene mutation was present in each of the 18 family members, according to Kang Zhang, M.D., Ph.D., assistant professor of ophthalmology and visual sciences at the University of Utah.

"The idea behind this research actually came from a 1984 paper that identified symptoms of this disease in 23 members of a 96-member Utah family. After reviewing the original study, we decided this would be great family to follow up on using today's genetic research techniques. The outcome was remarkable," said Zhang.

The study involved extensive hearing and vision exams at the University of Utah and genotyping analysis of DNA extracted from blood samples. The age of the family members with the gene mutation range from 11 to 77.

In addition to the Utah family, the Zhang's team also evaluated a large Belgian family with same symptoms. The same mutation was present in both families.

Zhang expects the study will result in greater numbers of patients being diagnosed with Beehive Syndrome. Specifically, he advocates that ophthalmologists caring for patients with optic atrophy should inquire about possible
'"/>

Contact: Chris Nelson
801-587-7693
University of Utah Health Sciences Center
11-Nov-2004


Page: 1 2

Related medicine news :

1. Indiana University researchers closer to helping hearing-impaired using stem cells
2. Boston University team finds link between high cholesterol and better cognitive performance
3. University seeks recruits for arthritis study
4. University of Manchester awarded 826k for brain science and mental health research
5. $4 million grant boosts University of Michigan campaign for a new childrens hospital
6. Lead in the environment causes violent crime, reports University of Pittsburgh researcher at AAAS
7. Next generation body scanner launched by the University of Manchester
8. University of Washington joins new Autism Treatment Network to provide better medical services
9. Binghamton University launches microelectronics research center
10. University of Manchester makes made-to-measure skin and bones a reality using inkjet printers
11. RelayHealth selected by Columbia University to link doctors and patients online

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:10/8/2019)... ... 08, 2019 , ... METAvivor Research and Support Inc., a non-profit organization dedicated ... Stage IV Stampede campaign. The campaign will commence with two days of action and ... advocacy boot camp, a march, a Die-In (hosted by partner MET-UP), and visits with ...
(Date:10/8/2019)... ... October 08, 2019 , ... ... Inc. a Digital Health Awards 1st Round (Top Ten) Finalist in its ... was to select companies that promote faster, better, more cost-effective healthcare by improving ...
(Date:10/8/2019)... ... October 08, 2019 , ... Dr. Marc Lazare, ... attended an advanced Level III training in Cagliari, Italy, this past September to ... place September 16-19, 2019 at the Sardinia Dental Teaching Center and covered several ...
(Date:10/8/2019)... (PRWEB) , ... October 08, 2019 , ... ... a cost of $28 billion per year, are reproducible. Rigor in bioanalytical method ... increasingly outsourced (by some estimates, more than half of the time) and senior ...
(Date:10/8/2019)... ... October 08, 2019 , ... U.S. Oral Surgery ... exclusively serves premier oral and maxillofacial surgeons – has formed a new partnership ... with two locations near Knoxville, Tennessee. The partnership is USOSM’s first in the ...
Breaking Medicine News(10 mins):
(Date:10/10/2019)... ... October 10, 2019 , ... Hospice of ... Thursday, September 26, at the Westchester Country Club in Rye. The event honored ... the organization and its mission. , “In Celebration” featured live entertainment, culinary delights ...
(Date:10/10/2019)... ... October 10, 2019 , ... This World Sight Day, we honor the ... is pleased to announce their recent interview with Brand Manager Lynn Hicks and ... consumers of all abilities identify and choose effective hair care products. , ...
(Date:10/9/2019)... ... 09, 2019 , ... Drs. Steven White, Brad Haines and Colton Fischer of ... apnea in Davidson, NC. If left untreated, sleep apnea can cause mental health ... a skilled dentist, those who suffer from snoring at night and excessive fatigue during ...
Breaking Medicine Technology:
Cached News: