Leber Congenital Amaurosis Essay

1503 words - 7 pages

Genetics is a topic that involves everyday life, you and I are made up of genetics. So what happens if something goes wrong in your genetics? Well that would form a mutation. There are so many mutations know today. These mutations can cause disease, cancer, and many other malfunctions. Today I am going to talk about a disease called Leber Congenital Amaurosis, this is caused by several mutations. It can affect the person in many different ways which will be discussed, also how it affects the families, and the genetics. Are there any cures or treatments for Leber Congenital Amaurosis? Well keep reading and you may find out.
After doing reading and research I found that Leber Congenital Amaurosis is one of the earliest and most severe forms of inherited retinopathy. You are probably asking what the disease is, well this disease is an eye disorder that affects the retina. The retina is the black spot in your eye it controls light sensitivity, and this is where the nerves are located that stimulate images in your brain. This is a disease that is diagnosed at birth or as a very young infant. It is known to progress with age. There are very distinct characteristics of this disorder. The earliest and most common symptom is nystagmus, which is shaking of the eyes. This usually appears within the first few months after they are born (Pediatric Ophthalmology, 2012). Also, a person with Leber Congenital Amaurosis is most likely to have deep set eyes, sensitivity to light, and tracking. Also in rare cases they may have delayed development and intellectual disability (Amaurosis, 2013). There are also certain behavioral symptoms that individuals with Leber Congenital Amaurosis tend to do. You may see them poking or rubbing their eyes with the knuckle or finger. Also some secretion such as clear liquid or puss may result from this. This behavior is called franceschettis oculo-digital (Amaurosis, 2013). Since individuals with Leber Congenital Amaurosis are living with out their eye site their other senses become stronger. For example, their touch once they have met someone several times just the touch of that persons hand and they know who you are, or the sound of your voice. It is very fascinating how strong their other senses become, when they walk into a room the individual will know that someone is there and the people in the room do not have to say a word. All of these things are possible because the person lost one sense, eyesight. As a normal individual would take all of these for granted, those who lost one adjust in the most extraordinary ways.
This disease does not only affect the individual that has it, but also the family as well. The child with Leber Congenital Amaurosis needs a person to help them with certain things. When they are younger they need more assistance with things they do in their everyday life. As they get older they make adjustments and learn to deal with their disorder. As a they learn to adjust...

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