Choroideremia disease abbreviated as CHM is a rare hereditary disorder that causes progressive loss of vision due to the degradation of the choroid (a network of blood vessels located between the retina and the sclera) and retina caused by lack of RAB Escort Protein-1 (REP-1). This protein functions to bring other small proteins into association with an enzyme that adds 20-carbon long chains to the small signals. It occurs almost exclusively to males. It is genetically passed through families by an X-linked pattern of inheritance. At the moment the cure to choroideremia has not been discovered yet but with research there has been incredible progress. The actual vision loss is caused by degeneration of several layers of cells essential to sight.
The gene that is responsible for the development of choroideremia is often passed by families although a spontaneous mutation may also cause the same. The reason that it usually affects males as compared to females is due to the chromosomal difference between the two genders. Mothers who carry the defective gene can pass it on to their male children while feathers pass it on to their female children hence the inheritance factor. In rare and few cases some children who are born of parents without the defective gene can also suffer from choroideremia. This can be caused by a genetic mutation during the embryonic stage of development of the child. So much research has been done on this and the possibility of getting a cure is guaranteed now it is just a matter of when the cure will be found.
Usually the first symptom of choroideremia is night blindness which is usually noticeable at an early age. Other symptoms of suffering from choroideremia are central vision or loss of peripheral vision. The others are deafness, obesity, mental retardation, progressive blindness as well as atrophy of the eye. Since the cure for choroideremia has not yet been discovered the best treatment would be living a healthy life and seeing an ophthalmologist so as to understand if the choroideremia is too advanced. Eat healthy foods and do exercise which will be good for your body and health. Do not give up because the doctors and researchers are on the verge of a breakthrough for the cure.
Tips and comments
As a parent if you are aware of the X-linked gene in your family or if your family has a history of choroideremia, it is advisable to make sure your male child gets regular check ups since choroideremia is a hereditary disease. It would be great if first the parents can visit a doctor before getting pregnant to confirm if they have the defective gene as well as understand how to deal with choroideremia at hand so that they will be in a position to be able to handle the disease. It is good to be aware that a cure has not yet been discovered so do not fall into the traps of quack doctors who can allegedly cure your sick child of choroideremia. Take care of your child and visit an ophthalmologist.
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