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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Retinitis pigmentosa
Retinitis pigmentosa (RP) refers to a group of inherited disorders that slowly leads to the degeneration of part of the retina, primarily the photoreceptors, ...
A randomized, placebo-controlled clinical trial of docosahexaenoic acid supplementation for X-linked retinitis pigmentosa
Hoffman DR, Locke KG, Wheaton DH, et al. Am J Ophthalmol 2004;137:704-718. PURPOSE: Low docosahexaenoic acid (DHA) in X-linked retinitis pigmentosa ...
Biological safety assessment of docosahexaenoic acid supplementation in a randomized clinical trial for X-linked retinitis pigmentosa
BACKGROUND: In a 4-year placebo-controlled trial to elevate blood docosahexaenoic acid levels in patients with X-linked retinitis pigmentosa (XLRP), the goal was to assess the potential benefit of d
Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene
Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene. Yokota T, Uchihara T, Kumagai J, et al. J Neurol Neurosurg Psychiatry 2000;68:521-525
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Researcher Manuel de Cerro reports that retinitis pigmentosa patients who received injections of fetal eyes cells have experienced some improvement in vision. The fetal cells were injected into an inc
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Berson EL, Rosner B, Sandberg MA, et al. Arch Ophthalmol 2004; 122:1306-1314. OBJECTIVE: To determine whether docosahexaenoic acid will slow the course ...
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