Retinitis Pigmentosa
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Facts About Retinitis Pigmentosa

Retinitis pigmentosa is a disease of eye, which is inherited by heredity. A patient suffers from night blindness at the primary stage and the vision problems increases with time. Most of them do not lose their eyesight completely. However, in some cases people can become completely blind even from their childhood. The spread of the disease varies depending on several conditions. It is an inherited retinal dystrophy. The retinal pigment epithelium or the photoreceptors gradually loose all its vision. The deficiency of apparent vision is indicated by the darkness that surrounds the central image.

 Symptoms of Retinitis Pigmentosa

 Retinitis Pigmentosa can be traced very easily. The epithelium of the retina is blotched with black bone spiculum pigments that clearly mark the presence of the disease. Some other symptoms like the head of the optic nerve becoming pale, retinal vessels becoming thin can also be observed. Posterior sub capsular cataract, cystic macular eye disease, cellophane maculopathy are also some of the other visible symptoms of this disease.

Diagnosis of Retinis Pigmentosa

 The record of failure in the functioning of the photoreceptor by the reports of the test of visual field and electro retinography forms the basis of the diagnosis. The manner in which the disease is transmitted is decided depending on the family records. Almost thirty-five loci or gene causes this disease. A person can have their DNA tested for the genes RPE65, ABCA 4, CRB1, PRPF3, PRPF8, RDS, RHO , RP1 and RLBP1. Molecular tests for others genes are also available. These tests are based on several researches.

An autosomal recessive, autosomal dominant person mostly inherits this disease. They are inherited in X linked mode and sometimes can be recessive. This disease affects both men and women. It is mostly present in men than in women. There are also some mitochondrial or digenic forms of the disease. Proper diagnosis is necessary for genetic counseling. Proper diagnosis and genetic counseling also determines the manner in which it is inherited in a particular family. Molecular genetic tests results are also affected by the diagnosis. One of the Usher syndromes of this disease is that it leads to gradual deafening.

Causes Of The disease

 The disease Retinitis pigmentosa is a hereditary disease. The retinal disorder is distinguished by the gradual loss of the cells of the photoreceptor. It can also lead to complete loss of eyesight. The disease retinitis pigmentosa is caused by the mutation of various genes. A rhodopsin gene mutation causes a pigment that was used for making an optical transduction fall enabling a man to see in low light was identified as the cause of the disease in 1989.

Several other causes are identified for the spread of this disease like fahr disease, carbohydrate deficient glycoprotein syndrome type 1a and medullary cystic renal disease. Usher’s syndrome, Lowe syndrome, melas, kearns-sayre syndrome, loken senior syndrome, harp syndrome also causes retinitis pigmentosa. Abetalipoproteinaemia, Stargardt's disease, Hallervorden-Spatz disease, Mirhosseini-Holmes-Walton syndrome, Alstrom syndrome, and Shwachman-Diamond syndrome also leads to retinitis pigmentosa.

Treatment of Retinitis Pigmentosa

 Several researches were made for the proper treatment of retinitis pigmentosa. However, there is no proper treatment of the disease till the present days, which can cure it completely. If a person takes vitamin A palmitate of 15000 IU then the spread of the disease could be checked. A person can delay the complete loss of his eyesight by ten years if he is supplemented with vitamin A in proper quantity. Researches are going on for identifying the proper treatment of the disease. Doctors might prescribe drug therapy, gene therapy, nutritional supplements, stem cells, artificial retinal transplant and natural retinal transplant in future. There was a research on mice in the Eye Hospital Of Moor Fields and University College London Institutes of Ophthalmology and Child Health. The research was made to discover a proper treatment of the disease. This research might become helpful for curing the blindness.

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