Normal vision. Courtesy NIH National Eye InstituteThe same view with tunnel vision from retinitis pigmentosa
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Retinitis pigmentosa

Retinitis pigmentosa, or RP, is a genetic eye condition. Generally, night blindness precedes tunnel vision by years or even decades. Many people with RP do not become legally blind until their 40s or 50s and retain some sight all their life. more...

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Others go completely blind from RP, in some cases as early as childhood. Progression of RP is different in each case.

RP is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or nyctalopia (night blindness), followed by constriction of the peripheral visual field and, eventually, loss of central vision late in the course of the disease.

Signs

Mottling of the retinal pigment epithelium with bone-spicule pigmentation is typically pathognomonic for retinis pigmentosa. Other ocular features include waxy pallor of the optic nerve head, attenuated retinal vessels, cellophane maculopathy, cystic macular edema, and posterior subcapsular cataract.

Diagnosis

The diagnosis of RP relies upon documentation of progressive loss in photoreceptor function by electroretinography (ERG) and visual field testing. The mode of inheritance of RP is determined by family history. At least 35 different genes or loci are known to cause nonsyndromic RP. DNA testing is available on a clinical basis for RLBP1 (autosomal recessive, Bothnia type RP), RP1 (autosomal dominant, RP1), RHO (autosomal dominant, RP4), RDS (autosomal dominant, RP7), PRPF8 (autosomal dominant, RP13), PRPF3 (autosomal dominant, RP18), CRB1 (autosomal recessive, RP12), ABCA4 (autosomal recessive, RP19), and RPE65 (autosomal recessive, RP20). For all other genes, molecular genetic testing is available on a research basis only.

RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. X-linked RP can be either recessive, affecting primarily only males, or dominant, affecting both males and females, although females are always more mildly affected. Some digenic and mitochondrial forms have also been described. Genetic counseling depends on an accurate diagnosis, determination of the mode of inheritance in each family, and results of molecular genetic testing. RP combined with progressive deafness is called Usher syndrome.

Treatment

There is currently no medical treatment for retinitis pigmentosa, although scientists continue to investigate possible treatments. Future treatments may involve retinal transplants, artificial retinal implants , gene therapy, stem cells, nutritional supplements, and/or drug therapies.

Sources

Jones BW, CB Watt, JM Frederick, W Baehr, CK Chen, EM Levine, AH Milam, MM LaVail, RE Marc 2003 Retinal remodeling triggered by photoreceptor degenerations. J Comp Neurol 464: 1-16.

Marc RE, BW Jones 2003 Retinal remodeling in inherited photoreceptor degenerations. Molecular Neurobiology 28: 139-148.

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Eyeing fetal cells to reverse blindness - fetal cell transplantation used to treat retinitis pigmentosa
From Science News, 11/23/96 by John Travis

Testing an experimental treatment that they liken to replacing old, deteriorated film in a camera with a fresh roll, scientists have begun injecting cells harvested from the eyes of aborted fetuses into the eyes of people with retinitis pigmentosa, the most common inherited cause of blindness.

This week, researchers involved in the effort claimed that five of the first eight patients who received the fetal cells have experienced discernible, though extremely limited, improvement in vision. Such cell transplants are unlikely ever to restore completely the eyesight of people with retinitis pigmentosa, but even a small improvement in vision would be welcome and useful, says Manuel del Cerro of the University of Rochester (N.Y.) School of Medicine and Dentistry, who reported the initial results of the cell transplants at a Society for Neuroscience meeting in Washington, D.C.

Retinitis pigmentosa, which afflicts several million people worldwide, slowly robs a person of sight by destroying the photoreceptor cells that line the eye's retina. The light-sensitive cells, commonly known as rods and cones, convert incoming images into patterns of electric impulses that travel through other retinal cell layers and finally to the brain.

For more than a decade, del Cerro and other researchers have investigated whether rods and cones ravaged by retinitis pigmentosa could be replaced with new photoreceptors (SN: 11/4/89, p. 297). In 1991, del Cerro's group found that fetal eye cells implanted into the eyes of blinded rats partially restored the animals' ability to perceive light (SN: 11/23/91, p. 325).

Those results encouraged del Cerro to collaborate with eye surgeons at the L.V. Prasad Eye Institute in Hyderabad, India, on a human trial. The surgeons selected eight retinitis pigmentosa patients whose vision had deteriorated to the point where they could only perceive the difference between light and dark. Working on one eye of each patient, the surgeons made a small incision in the retina and injected about 1 million fetal eye cells into the space beneath the incision.

Their hope was that the fetal eye cells, which had yet to differentiate into any one cell type, would develop predominantly into new photoreceptors and establish the retinal connections needed to convey visual information.

It took 4 to 6 months before any of the patients reported an improvement in vision, says del Cerro. Two of the patients now detect hand motion, he says. Two others can reportedly count fingers held up at a short distance.

The fifth patient can now recognize faces and walk around unaided, thanks to the development of a tiny field of view in which he has 20/200 vision. It's "a little keyhole view of the world," says del Cerro.

Several retinal transplant researchers contacted by Science News argue that the trial in India should have included an independent evaluation of each patient's vision before and after the surgery.

"I simply don't believe these results," says Peter Gouras of Columbia University, who has experimented with cell transplants for a retinal disease called age-related macular degeneration.

Other vision researchers privately echo Gouras' skepticism, and some raise the issue of whether there has been sufficient evidence that cell transplants work in animals to justify the decision to start trials in humans.

Undeterred by the criticism and buoyed by the apparent success of the first trial, del Cerro and his colleagues have already started additional human trials in India and at Johns Hopkins Medical Institutions in Baltimore. A research group led by Henry Kaplan of Washington University in St. Louis is ready to start its own human trial of the cell transplant strategy, using photoreceptors harvested from adult eyes.

COPYRIGHT 1996 Science Service, Inc.
COPYRIGHT 2004 Gale Group

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