Tag: "pigmentosa" at biology news

U-M team: Genetic testing sheds light on degenerative eye disease

...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 n...

Unfolded proteins may protect cells from dying

...estigator, focused on autosomal dominant retinitis pigmentosa (ADRP), which causes blindness. Unfolded proteins linked to ADRP accumulate in the endoplasmic reticulum, an organelle where proteins are manufactured and packaged for transport to the cell surface, unlike some other forms of the unfolded protein res...

The National Academies' Distinguished Speaker Series runs Jan. 17-March 21, 2007

...s about the effects of eye diseases like retinitis pigmentosa and age-related macular degeneration, and his work is restoring hope to those who previously had little chance of seeing again. Mark Humayun, M.D., Ph.D., is professor of ophthalmology and biomedical engineering, University of Southern California; a...

Blind mice recover visual responses using protein from green algae

...ition is similar to the blinding disease retinitis pigmentosa (RP) in humans. Vision normally begins when rods and cones, also called photoreceptors, respond to light and send signals through the retina and the optic nerve to the visual cortex of the brain, where visual images are formed. Unfortunately, photore...

Fish oil may help protect against retinal degenerative diseases

...e retina from degenerative diseases like retinitis pigmentosa and age-related macular degeneration, the leading ...n to be in short supply in patients with retinitis pigmentosa and Usher's syndrome, promotes protective cell signaling by facilitating the expression of helpful r...

A new way of looking at molecular motors

...of human and animal disorders, including retinitis pigmentosa (which causes blindness), polycystic kidney disease, brain development defects, neurodegenerative diseases, muscular dystrophy, skin pigmentation problems, and genetic hearing loss. Researchers led by Dominique Soldati, a Howard Hughes Medical Insti...

Scientists link another gene to degenerative blindness

...e-related macular degeneration (AMD) and retinitis pigmentosa (RP). It has been a painstaking scientific journey as AMD and RP each belong to a complex family of disorders, in which every disorder has many forms and each form is encoded with a distinct genetic recipe. Even AMD, a major cause of vision loss in p...

Genetic testing helps physicians zero in on eye disease

...ients with the blinding disease known as retinitis pigmentosa (RP). The screening technique has proven to be reliable and cost-effective. In the September issue of Investigative Ophthalmology & Visual Science (IOVS), scientists at the U-M Department of Ophthalmology and Visual Sciences report on the arRP-I sequ...

Six previously blind patients detect light, motion, identify objects with retinal prostheses

...tion due to the degenerative eye disease retinitis pigmentosa (RP). Ultimately, however, the device is likely to be used for the millions of people suffering from age-related macular degeneration, or AMD, as well. In fact, notes Humayun, there are 25 million people across the globe, including 6 million in the U...

Ophthalmologists implant five patients with artificial silicon retina microchip

... patients to treat vision loss caused by retinitis pigmentosa (RP). The implant is a silicon microchip 2mm in di...otoreceptor cells occurs in persons with retinitis pigmentosa (RP) and other retinal diseases. The microsurgical procedure starts with three tiny incisions in the...

Ophthalmologists and physicists team up to design 'bionic eye'

...orldwide, 1.5 million people suffer from retinitis pigmentosa (RP), the leading cause of inherited blindness. In the Western world, age-related macular degeneration (AMD) is the major cause of vision loss in people over age 65, and the issue is becoming more critical as the population ages. Each year, 700,000 p...

From gene discovery to preventing eye disease in retinitis pigmentosa

(Philadelphia, PA) -- Retinitis pigmentosa (RP) is an inherited eye disease that causes visual disability leading to blindness. Over the last 15 years, researchers have pinpointed defects in dozens of genes causing different forms of RP. Surprisingly, patients with the same genetic defect can...

Secrets of the cilia: Kidney disease and blindness share common genetic defect

...ents who have mutations in NPHP5 develop retinitis pigmentosa by age three. What's especially interesting, according to Hildebrandt, is that similar molecular mechanisms appear to cause both blindness and kidney failure. U-M researchers knew from their previous work that the proteins produced by NPHP genes are...

Researchers discover way to make cells in the eye sensitive to light

...blindness, such as retinitis pigmentosa. Retinitis pigmentosa is a form of hereditary blindness where the rods and cones are destroyed, but the rest of the eye and retina remains intact. By switching on the melanopsin it could be possible to restore the eyes ability to respond to light. Although making cells i...

'Blind' cells see the light; maybe someday humans will, too

...ause of nerve damage or diseases such as retinitis pigmentosa or age-related macular degeneration. In these cases, the photoreceptor cells are dead, but other nerve cells downstream of the photoreceptors are still alive. In particular, retinal ganglion cells, which are the third cell in the path from photorecep...

Retinal stem cells can regenerate after transplant

...ent of degenerative eye diseases such as retinitis pigmentosa and macular degeneration but that's still a long way off, says Coles. She, van der Kooy and their colleagues are now exploring whether retinal stem cells from healthy mice continue to develop into photoreceptor cells and RPE cells when transplanted t...

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