UI researchers find rare eye disease

University of Iowa researchers have found the existence of a new, rare inherited eye disease.

Now the search is on to find the genetic cause, which investigators hope will increase understanding of more common retinal diseases.

Findings appeared in the Archives of Ophthalmology.

The macula, located within the retina, is an area of high-resolution central vision needed for tasks such as reading or driving.

This area is damaged in more common retinal conditions such as macular degeneration and can be damaged by diabetes.

“It is rare to find a new inherited eye disease that affects the macula. We thought we had seen them all,” said study lead author Dr. Vinit Mahajan, assistant professor of ophthalmology and visual sciences at the UI Carver College of Medicine.

Mahajan said the newly found retinal disease causes abnormal blood vessels in the macula. The vessels are prone to bleeding, causing swelling or scars that ‘black out' or blur parts of the field of vision.

The finding came about when one person 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,” said Mahajan, who also is a retinal specialist with UI Hospitals and Clinics.

The team assessed 20 extended family members who were not blind, but had visual problems of different severities.

Some family members also had areas of central vision loss, and some family members had strabismus, a disorder in which the eyes are not aligned.

Researchers presented their findings at international meetings in Arizona, Florida and London and are working with researchers worldwide to determine if other people have this disease.

The study's senior author was Dr. Edwin Stone, Howard Hughes Medical Institute investigator. Dr. Stephen Russell, UI professor of ophthalmology and visual sciences, also contributed.

The study was supported in part by grants from the Foundation Fighting Blindness and Research to Prevent Blindness.

University of Iowa researchers have found the existence of a new, rare inherited eye disease.

Now the search is on to find the genetic cause, which investigators hope will increase understanding of more common retinal diseases.

Findings appeared in the Archives of Ophthalmology.

The macula, located within the retina, is an area of high-resolution central vision needed for tasks such as reading or driving.

This area is damaged in more common retinal conditions such as macular degeneration and can be damaged by diabetes.

“It is rare to find a new inherited eye disease that affects the macula. We thought we had seen them all,” said study lead author Dr. Vinit Mahajan, assistant professor of ophthalmology and visual sciences at the UI Carver College of Medicine.

Mahajan said the newly found retinal disease causes abnormal blood vessels in the macula. The vessels are prone to bleeding, causing swelling or scars that ‘black out' or blur parts of the field of vision.

The finding came about when one person 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,” said Mahajan, who also is a retinal specialist with UI Hospitals and Clinics.

The team assessed 20 extended family members who were not blind, but had visual problems of different severities.

Some family members also had areas of central vision loss, and some family members had strabismus, a disorder in which the eyes are not aligned.

Researchers presented their findings at international meetings in Arizona, Florida and London and are working with researchers worldwide to determine if other people have this disease.

The study's senior author was Dr. Edwin Stone, Howard Hughes Medical Institute investigator. Dr. Stephen Russell, UI professor of ophthalmology and visual sciences, also contributed.

The study was supported in part by grants from the Foundation Fighting Blindness and Research to Prevent Blindness.University of Iowa researchers have found the existence of a new, rare inherited eye disease.

Now the search is on to find the genetic cause, which investigators hope will increase understanding of more common retinal diseases.

Findings appeared in the Archives of Ophthalmology.

The macula, located within the retina, is an area of high-resolution central vision needed for tasks such as reading or driving.

This area is damaged in more common retinal conditions such as macular degeneration and can be damaged by diabetes.

“It is rare to find a new inherited eye disease that affects the macula. We thought we had seen them all,” said study lead author Dr. Vinit Mahajan, assistant professor of ophthalmology and visual sciences at the UI Carver College of Medicine.

Mahajan said the newly found retinal disease causes abnormal blood vessels in the macula. The vessels are prone to bleeding, causing swelling or scars that ‘black out' or blur parts of the field of vision.

The finding came about when one person 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,” said Mahajan, who also is a retinal specialist with UI Hospitals and Clinics.

The team assessed 20 extended family members who were not blind, but had visual problems of different severities.

Some family members also had areas of central vision loss, and some family members had strabismus, a disorder in which the eyes are not aligned.

Researchers presented their findings at international meetings in Arizona, Florida and London and are working with researchers worldwide to determine if other people have this disease.

The study's senior author was Dr. Edwin Stone, Howard Hughes Medical Institute investigator. Dr. Stephen Russell, UI professor of ophthalmology and visual sciences, also contributed.

The study was supported in part by grants from the Foundation Fighting Blindness and Research to Prevent Blindness.