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 t...
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Jacobson SG, Cideciyan AV, Aleman TS. 2008. Photoreceptor Layer Topography in Children with Leber Congenital Amaurosis Caused by RPE65 Mutations. ARVO (**Edition**) [Internet]. [**Last Updated**, cited 2013 Nov 12] Invest. Ophthalmol. Vis. Sci. October 2008 vol. 49 no. 10 4573-4577. Available from: http://www.iovs.org/content/49/10/4573.full.pdf
Morimura H, Fishman GA, Fulton AB. 1998. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. PNAS (**Edition**) [Internet]. [**Last Updated**, cited 2013 Nov 12] PNAS March 17, 1998 vol. 95 no. 6 3088-3093. Available from: http://www.pnas.org/content/95/6/3088.short
EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant, or X-linked recessive traits. The primary characteristics are hyperextensible skin and joints (Dia. 1-2, pg.6), tendency to bruise easily (Dia. 3, pg.6), reduced wound healing capability, pseudotumors, and ocular defects. Differences within the six types may reflect inter/intra familial variability or genetic heterogeneity. Each type of EDS is classified symptoms and signs that are resulted (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).
The widespread involvement of Retinal Pigment Epithelium (RPE), flat (placoid) nature of the lesions and absence of overlying serous retinal detachment and minimal choroidal involvement lead Gass to conclude RPE was primary focus of inflammation.(1) ...
In today’s modern age science is moving at a rapid pace; one of those scientific fields that has taken the largest leaps is that of genetics. When genetics first comes to mind, many of us think of it as a type of science fiction, or a mystical dream. Yet genetics is here, it is real, and has numerous ethical implications.
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
-Reilly Philip. Is It In Your Genes. Cold Spring Harbor Laboratory Press. 2004: 223-228. Print
Tishkoff, S. A., Goldman, A., Calafell, F., Speed, W. C., Deinard, A. S., Bonne-Tamir, B., Kidd, J. R., Pakstis, A. J., Jenkins, T., Kidd, K. K. A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. Am. J. Hum. Genet. 62: 1389-14`02, 1998.
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
...hich inherited traits, such as those for genetic disease, can be tracked over generations. Throughout out the course of human development, scientists will continue to find new new ways to help the human race through the discovery of the human gene inside of each of us, its uses, as well as complications, that can help the survival of our species.
Albinism is a genetic condition present at birth, characterized by a small amount of melanin pigment in the skin, hair and eye. Albinism is an occasional inborn sickness related with vision difficult, which affect one in seventeen thousand persons. It is not a contagious disease and cannot be spread over contact. Albinism affects individuals from all races. Most folks with albinism have parents with a normal color of skin. Some may not even recognize that they are Albino until later on in their life. This paper will be based on the study of albinism, causes, types, the genetic transmission and some possible medical problem.
There's a disease that lurks among young children even to this day. It's a direct result of a mutation in the genes that could result in the removal of the eye. Both boys and girls are affected, and one in every fifteen to thirty thousand babies is infected every year (Ambramson, Ch1). This eye corrupting, chromosomal abnormality shows up in about 300-350 new cases each year. It is called retinoblastoma.
Amblyopia is a condition in which visual acuity in one eye is greatly reduced. It is caused by lack of stimulation or disuse during visual development (Rose, 1998). Because the eye is not fully developed at birth (Jarvis, 1992, as cited in Rose, 1998), infants need stimulation to complete the visual neural pathway. When one or both eyes are inhibited, for example due to misalignment of one eye (strabismus) or a large difference in refractive power between two eyes (anisometropia), the neural pathway for the inhibited eye develops abnormally, or does not develop at all. At approximately six years of age eye development is complete (Stager, 1990, as cited in Rose, 1998). Before visual development is complete amblyopia can be treated. If it is caught and treated at an early age, normal vision can be preserved (Rose, 1998).
Genes are, basically, the blueprints of our body which are passed down from generation to generation. Through the exploration of these inherited materials, scientists have ventured into the recent, and rather controversial, field of genetic engineering. It is described as the "artificial modification of the genetic code of a living organism", and involves the "manipulation and alteration of inborn characteristics" by humans (Lanza). Like many other issues, genetic engineering has sparked a heated debate. Some people believe that it has the potential to become the new "miracle tool" of medicine. To others, this new technology borders on the realm of immorality, and is an omen of the danger to come, and are firmly convinced that this human intervention into nature is unethical, and will bring about the destruction of mankind (Lanza).
Usher Syndrome (US) is a genetic disorder, caused by a recessive gene, and when both parents do not show any symptoms or express any of the genes characteristics. According to Benson, US is the most common cause of both deafness and blindness being inherited (2015). Currently, there are at least 10 genes able to cause US (Benson, 2015). Modern technology, such as newborn hearing screening, has reduced the age of diagnosed hearing loss from 12-18 moths to 6 months. Unfortunately, children with US are often diagnosed with only a hearing loss, at first, because problems with vision do not appear until much later. This misdiagnosis leaves parents confused because US has never been in their family before, but there is only a 25% their offspring with inherit US, and that is if they both carry the same genetic variation of US. There are also three different types of US and each type faces a different way to manage/treat these issues (Wallber, 2009b).
People with ocular albinism, which only the eye lacks melanin pigment, while everything else appears normal. People who have this have a variety of the eye disorders because of the lack of pigment impairs normal eye development. These effected are extremely sensitive to bright light. Treatment for ocular albinism includes the use of visual aids and surgery for strabismus.
A genetic mutation is a permanent change in the sequence of the DNA that makes up a gene. A mutation of these sorts can be caused by either inheritance from the parent or caused sometime during the life of someone. The mutation that has been inherited is called a germline mutation. Germline mutations affect virtually the entire body, and they seem to be present in every cell. A somatic mutation, or one that is caused in the DNA of a single cell sometime during the life, can be caused by an environmental factor or a wrong bonding in the DNA molecule. These cannot be passed down to the next generation of children because they occur in a specific cell as opposed to in a reproductive cell. Some mutations occur in the embryo as it is growing. These may occur during cell division, and some of the cells may or may not inherit this mutation. Some mutations are extremely rare, and others are incredibly common. Those that occur in more than one percent across a population are considered polymorphisms. Polymorphisms are considered normal variations in DNA, and they are known to cause simple changes such as variations in blood types and hair color. Although these are not typically fatal, they can influence the creation of some disorders (Lister Hill National Center for Biomedical Communications, U.S. National Library of Medicine, National Institutes of Health, Department of Health and Human Services, USA.gov, 2013).