University of Iowa researchers have found the existence of a new, rare inherited retinal视网膜 disease. Now the search is on to find the genetic² cause, which investigators³ hope will increase understanding of more common retinal diseases. The findings appeared in the Nov. 9 issue of the Archives of Ophthalmology眼科学.

The macula斑点，黑子, located within the retina, is an area of high-resolution central vision that is needed to read or drive, for example. This area is damaged in more common retinal conditions such as macular degeneration恶化，退化 and can be damaged by diabetes糖尿病.

"It is rare to find a new inherited eye disease that affects the macula. We thought we had seen them all," said the study's lead author Vinit Mahajan, M.D., Ph.D., assistant professor助理教授 of ophthalmology and visual sciences at the University of Iowa Roy J. and Lucille A. Carver College of Medicine.

"This newly found retinal disease causes abnormal blood vessels⁵ in the macula, and these vessels are prone⁶ to易于 bleeding. This causes swelling膨胀，肿大 or scars that 'black out' or blur⁸ parts of the field of vision," said Mahajan, who also is a retinal specialist with University of Iowa Hospitals and Clinics.

The finding came about when one person in a family in the United States sought care for eye problems. "If a doctor saw just one family member, they would probably call this macular degeneration. We knew there was something different, and we had to examine the rest of the family," Mahajan said.

The team assessed 20 extended family members who were not blind but had visual problems of different severities严格，严重. Some family members also had areas of central vision loss, and some family members had strabismus斜视, a disorder⁹ in which the eyes are not aligned¹⁰.

The University of Iowa researchers have presented their findings at international meetings of retinal specialists in Arizona, Florida and London. The investigators are now working with researchers worldwide to determine if other people have this particular disease.

"Through our paper and by sharing pictures of what the affected¹¹ eye looks like, we hope to find more people affected," Mahajan said. "We also will work to find the gene¹ that causes the condition. This information could be very useful in eventually preventing or treating this and other diseases that affect the macula."

The advanced genetics research capabilities¹² at the University of Iowa Carver Family Center for Macular Degeneration increase the likelihood of finding a gene, Mahajan said.