Retinitis pigmentosa is an eye disease in which there is damage to the retina. The damage gets worse (progresses) over time.

RP

Retinitis pigmentosa commonly runs in families. The disorder can be caused by a number of genetic defects.

The cells controlling night vision (rods) are most likely to be affected. However, in some cases, retinal cone cells are damaged the most. The main sign of the disease is the presence of dark lines in the retina.

As the disease gets worse, side (peripheral) vision is gradually lost. The condition may eventually lead to blindness, but usually not complete blindness. Signs and symptoms often first appear in childhood, but severe vision problems do not usually develop until early adulthood.

The main risk factor is a family history of retinitis pigmentosa. It is an uncommon condition affecting about 1 in 4,000 people in the United States.

• Decreased vision at night or in low light
• Loss of side (peripheral) vision
• Loss of centralvision (in advanced cases)

Tests to evaluate the retina:

• Color vision
• Examination of the retina by ophthalmoscopy after the pupils have been dilated
• Fluorescein angiography
• Intraocular pressure
• Measurement of the electrical activity in the retina (electroretinogram)
• Pupil reflex response
• Refraction test
• Retinal photography
• Side vision test (visual field test)
• Slit lamp examination
• Visual acuity

There is no effective treatment for this condition. Wearing sunglasses to protect the retina from ultraviolet light may help preserve vision.

Controversial studies have suggested that treatment with antioxidants (such as vitamin A palmitate) may slow the disease from getting worse.

Several clinical trials are in progress to investigate new treatments for retinitis pigmentosa.

Microchip implants that go inside the retina are in the early stages of development for treating blindness associated with this condition.

It can help to see a low-vision specialist. Make regular visits to an eye care specialist, who can screen for cataracts or retinal swelling -- both of which can be treated.

The disorder will continue to progress, although slowly. Complete blindness is uncommon.

Peripheral and central loss of vision will eventually occur.

Patients with retinitis pigmentosa often develop cataracts at an early age. Cataracts can be removed if they cause vision loss.

Many other conditions have similarities to retinitis pigmentosa, including:

• Friedreich's ataxia
• Laurence-Moon syndrome (also called Laurence-Moon-Bardet-Biedl syndrome)
• Mucopolysaccharidosis
• Muscular dystrophy (myotonic dystrophy)
• Usher syndrome (a combination of retinitis pigmentosa and hearing loss)

Call your health care provider if night vision becomes difficult or if you develop other symptoms of this disorder.

Genetic counseling may determine whether your children are at risk for this disease.

Sieving PA. Retinitis pigmentosa and related disorders. In: Yanoff M, Duker JS, Augsburger JJ, Azar DT. Ophthalmology. 2nd ed. Philadelphia, PA: Mosby; 2004:chap 108.

Progression is different in each case of retinitis pigmentosa. The night blindness phase of the disease can proceed tunnel vision by years or even decades, and many people with retinitis pigmentosa do not legally go blind until their forties or fifties. Some never retain some level of vision throughout their lives. At the same time, others may go blind as early as during childhood.

Retinitis Pigmentosa diagnosis come as a fearful shock to some people, which is why retinitis pigmentosa treatments are so important.

Since time out of mind, people have struggled to treat the diseases around them. They have relied on everything from superstition, prayer, spells and religious chants to herbal remedies, surgeries and medicines, some of which are still in use today. Unfortunately for people before the modern era, there was very little to be done for loss of sight. Our ancestors had very few options in terms of Retinitis Pigmentosa treatment.

Retinitis pigmentosa is caused by abnormalities in the receptors in the eye, the rods and cones which allow us to see color, light and movement. As these abnormalities increase over time, the sufferer's eyesight diminishes. There was very little for even our grandfathers and grandmothers to do when faced with this sort of disease. It has only been recently that our understanding of how the eye works, our understanding of how the body as a whole operates, and our technology has reached a point where retinitis pigmentosa treatments have become something of a reality and moved out of the realms of witchcraft and hope.

Retinitis pigmentosa treatments are still relatively few. There is no true cure for retinitis pigmentosa, only treatments which may help to slow the progression of this degenerative disease.

Among the first Retinitis Pigmentosa treatment options for people diagnosed with retinitis pigmentosa are medications and supplements. For example, vitamin A therapies can support eye health and slow the progression of this disease. People who receive these should have their liver enzymes checked annually, since in too great of doses, vitamin A can become toxic to the system. Other retinitis pigmentosa treatment options include omega-3 polyunsaturated fatty acid and antioxidant, docosahexaenoic acid, acetazolamide, lutein, and calcium blockers.

DAI Li-li, SUN Da-wei, WANG Zheng, FU Song-bin, HUANG Shang-zhi, ZHANG Zhong-yu, ZENG Guang, PENG Shao-min

Keywords: retinitis pigmentosa, autosomal dominant

Abstract:

Background The autosomal dominant form of retinitis pigmentosa (ADRP) can be caused by mutations in 14 genes and further loci remains to be identified. This study was intended to identify mutations in a Chinese pedigree with ADRP.

Methods A large Chinese family with retinitis pigmentosa was collected. The genetic analysis of the family suggested an retinitis pigmentosa autosomal dominant pattern. Microsatellite (STR) markers tightly linked to genes known to be responsible for ADRP were selected for linkage analysis. Exons along with adjacent splice junctions of PRPF31 were amplified by polymerase chain reaction (PCR) and screened by direct sequencing.

Results The caused gene of ADRP was mapped to 19q13.4 between markers D19S572 and D19S877, with a maximum LOD score of 3.01 at marker D19S418 (recombination fraction=0).

Conclusion Retinitis Pigmentosa Autosomal The affected gene linked to the 19q13.4 in a Chinese family with ADRP, which is different from other mutations at the same loci in other Chinese families. Chinese Medical Journal 2009;122(9):1097-1101

This study was supported by : National Natural Science Foundation of China(No. 30772381) Science"> Free Full Text [ HTML | PDF(152K) ] Abstract download [ TXT | XML]

Worldwide there are various treatments suggested by the medical world but none scientifically proves any solid results. The general idea amongst ophthalmologists is that there is no cure for Retinitis Pigmentosa. Proposed treatments go from a vitamin based medication to avoiding strong day light, to ozone or electro-stimulation. The truth is that some treatments do actually have certain effects. They tend to slow down the progress of the disease. But there is no real over all treatment for patients. All these treatments are a strain on the patients already hard every day life and in the end bring no solution.

Since the early 50ies the Cuban Doctor Orfilio Pelaez Molina dedicated a life time of medical research to the disease Retinitis Pigmentosa. As a young doctor he was angered when a good friend of his was diagnosed with RP and the local doctor simply said there was nothing he could do: his friend would become gradually blind.

Since retinitis pigmentosa symptoms runs within the family members, this disorder can be quite a outcome of several genetic defects. The cells that management the vision at night time or night time vision are affected triggering the particular person with this issue to experience issues seeing at night time. The cardinal signal of this eye condition will be the presence within the retina of dark deposits.

Very first Retinitis Pigmentosa Symptoms Causes Surgery of this illness can occur at childhood with minimal effects until finally they get to early adulthood. An individual may well knowledge reduced vision during the night time or in areas with reduced light, tunnel vision due to reduction of peripheral vision, and in worst scenario the loss of central vision.

Up to this date, there exists no acknowledged efficient treatment method for this situation to prevent everlasting blindness. A peripheral and central vision loss will finally occur. Sufferers with Retinitis Pigmentosa Symptoms Surgery

have greater dangers to create cataract at an early ages or macular edema. The one method to delay the program of blindness is via supportive treatment options when a complication arises.

The optometrist Central Texas could be the correct eye healthcare supplier to visit for genetic counseling and testing for the chance of one's youngster to create this kind of condition. The optometrist could also assist from the management of symptoms when night vision is taking its toll and when other signs and symptoms from the condition are beginning to create.

The optometrist Central Texas will do every thing they are able to to help you receive via this disabling illness by means of correct management of arising Retinitis Pigmentosa Symptoms Surgery and issues as the disorder progresses.

It is responsible for capturing images from the visual field. People with RP experience a gradual decline in their vision because photoreceptor cells (rods and cones) die.

Forms of RP and related diseases include Usher syndrome, Leber's congenital amaurosis, rod-cone disease, Bardet-Biedl syndrome, and Refsum disease, among others.

Pigmentosa retinitis (RP) is often a group of eye circumstances linked to genetics that result in an incurable blindness by leading to damage to the retina. This is a degenerative and progressive illness that can't be cured and includes a extremely poor prognosis. The progression of Pigmentosa Retinitis starts with evening blindness then tunnel vision and up right up until blindness happens.

Since pigmentosa retinitis runs within the family members, this disorder can be quite a outcome of several genetic defects. The cells that management the vision at night time or night time vision are affected triggering the particular person with this issue to experience issues seeing at night time. The cardinal signal of this eye condition will be the presence within the retina of dark deposits.

Very first Pigmentosa Retinitis Symptoms of this illness can occur at childhood with minimal effects until finally they get to early adulthood. An individual may well knowledge reduced vision during the night time or in areas with reduced light, tunnel vision due to reduction of peripheral vision, and in worst scenario the loss of central vision.

Up to this date, there exists no acknowledged efficient treatment method for this situation to prevent everlasting blindness. A peripheral and central vision loss will finally occur. Sufferers with Pigmentosa Retinitis have greater dangers to create cataract at an early ages or macular edema. The one method to delay the program of blindness is via supportive treatment options when a complication arises.

The optometrist Central Texas could be the correct eye healthcare supplier to visit for genetic counseling and testing for the chance of one's youngster to create this kind of condition. The optometrist could also assist from the management of symptoms when night vision is taking its toll and when other signs and symptoms from the condition are beginning to create.

The optometrist Central Texas will do every thing they are able to to help you receive via this disabling illness by means of correct management of arising Pigmentosa Retinitis Symptoms and issues as the disorder progresses.

An optometrist's primary career is always to confirm for visual impairments. They largely offer with vision dilemma a single might have and for just about any other eye ailments, Austin eye physicians would, obviously, make the appropriate recommendation to an additional eye specialist. While an optometrist cannot execute any form of surgical treatment, Austin eye medical professionals are armed with the appropriate credentials and may diagnose and treat general eye illnesses and impairment in vision. We've a wide assortment of specialty that may cater to the various wants of patients with distinct eye deformities and dysfunction.