Clinical Features Of Leber 's Hereditary Optic Neuropathy Gene Omim Essay

Identified as LRRK2, this gene mutation only accounts for one to two percent of all cases of Parkinson’s disease. (Michael J. Fox Foundation)

The symptoms include bilateral, painless, subacute visual failure. The symptoms will not appear until the affected individual develops visual blurring in one eye. The central visual field will be affected in this eye, and 2-3 months later, these symptoms will become apparent in the other eye (Yu-Wai-Man et al., 2011a). There are 3 points at which a mutation in the mtDNA would almost certainly result in LHON. These are m.3460G>A, m.11778G>A and m.14484T>C. This information is known because over 95% of LHON pedigrees are known to harbour one of these mtDNA point mutations. (Yu-Wai-Man et al., 2009a)

A medical definition of vision impairment is a sine qua non that prohibits 20/20 vision in one or both eyes (Bowman, Bowman, Dutton & Royal National Institute for the Blind, 2001; Vision Australia, 2015; Webster & Roe, 1998). Examples of vision impairment include, cataracts, which has the lens inside the eye increasingly cloudy; albinism, which is passed down genetically affecting clear vision and causes sensitivity to bright light; optic nerve damage, which affects field of vision as those nerves controlling vision are disrupted; macular degeneration, where parts of the retina that control colour and fine details are affected; retinitis pigmentosa, which is an ongoing reduction of the field of vision available and nystagmus, where the eye flickers involuntary (Bowman, Bowman, Dutton & Royal National Institute for the Blind, 2001; American Foundation for the Blind, 2015; Vision Australia, 2015 ; Baton Rouge Regional Eye Bank, 2015). John suffers from retinitis

Colour blindness can is often carries the mutated gene on the X chromosomes that it passed 50% of this over to the child, the mother may not have had colour blindness but it would most likely be carried on one of the X chromosomes, If the mother is the carrier and the father doesn’t have colour blindness there is a one in two chance that the son may have the disease while for the daughter there is a one in two chance that she would be the carrier of the disease and there being no chance in her getting it. (National Eye Institution, Accessed 22.08.2015). If both of the Parents are carriers that means that there is a one in four chance that the child would most likely have the disease, one in two that the child is a carrier of the disease or a one in four chance that the child isn’t a carrier of the disease and also doesn’t have the disease although it is most likely that one of the children would end up getting colour blindness if one of the parents happen to have it (National Eye Institution, Accessed

Autosomal dominant LGMD occur less often than recessive dominant LGMD. In the metabolism myotilin gene mutations occur, it may be due to a deficiency of vitamin B12, vitamin E, folate or exposures to nitrous oxide. LGMD 1A disease normally occurs from the age 42 to 77, and develops in the same areas (hip, shoulder and back) however, it could spread to the leg muscles. Due to the fact that myotilin gene is mutated, it causes focal myofibrillar destruction to occur, and this results in intracytoplasmic deposits to float around in the blood stream. In one case study done in Barcelona in 2011, there were 13 patients who were all diagnosed with myotilin gene mutation disease. The results showed that the deposits of myofibrillar became immune to myotilin and cluster up the vacuoles and interfere with the Z-lines. Overall the study revealed that each patient shared the same phenotypic characteristics, LGMD 1A and myofibrillar myopathy variations which emphasizes that LGMD is a developing neuromuscular disorder (Montse,

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

Warren Tay, an English physician who first described the symptomatic cherry-red eye in 1881 (Edelson, 1997). Research later in the 20th century illustrated that Tay-Sachs disease is a genetic disorder caused by a mutation in the HEXA gene on chromosome 15. Many other HEXA mutations have been discovered since then, including different mutations within different populations. Being an autosomal recessive disorder, for an individual to exhibit symptoms it is required to have two Tay-Sachs alleles affected, meaning that when both parents are carriers, the offspring have a 25% of being affected. This disease has shown to be prevalent in certain populations in recent years. Those of Ashkenazi Jewish descent are one of these populations, being more prone to the infantile form of Tay-Sachs disease, caused by a base pair insertion leading to the mutation. More research has led us to believe that compound heterozygosity is ultimately responsible for the disease’s variability among different populations. Those who are heterozygous carriers tend to exhibit abnormal enzyme activity but never show true disease symptoms. This is due to the dominance phenomenon, and with Tay-Sachs being recessive autosomal, it requires

Retinitis Pigmentosa (RP) is one of such currently untreatable causes of blindness. RP, along with Age Related Macular Degeneration (AMD) are amongst the more frequent causes of blindness in the developed world (Greenwald 2009), while RP itself is the leading cause of inherited blindness (Palanker 2004).

Med. Genet 2009. 46, 825–833; Cardoso, C., Leventer, R.J., Ward, H.L., Toyo-Oka, K., Chung, J., Gross, A., Martin, C.L., Allanson, J., Pilz, D.T., Olney, A.H., et al. (2003). Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am. J. Hum. Genet. 72, 918–930). MDS is caused by a heterozygous deletion of chromosome 17p13.3, involving several genes including PAFH1B1 and YWHAE coding for LIS1 and 14-3-3 proteins, respectively. This deletion induces malformations during cortical development (Dobyns, W.B., Stratton, R.F., Parke, J.T., Greenberg, F., Nussbaum, R.L., and Ledbetter, D.H. (1983). Miller-Dieker syndrome: Lissencephaly and monosomy 17p. J. Pedod. 102, 552–558; Chong, S.S., Pack, S.D., Roschke, A.V., Tanigami, A., Carrozzo, R., Smith, A.C.M., Dobyns, W.B., and Ledbetter, D.H. (1997). A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum.

Per (2004-2006) records and a consultative examination (CE), the claimant reported a history of retinopathy of prematurity that caused right eye blindness since birth and a cataract in the right eye, as well as a visual field restriction (less than 20 degrees), myopia, and poor visual acuity in the left eye that required corrective eyeglasses. She also had a history of asthma and migraine headaches.

Mitochondrial disorders may be caused by mutations which are acquired or inherited in mitochondrial DNA (mtDNA) or in nuclear genes that code for mitochondria. Disorders can also be a result of environmental stress, adverse

The first disease I’m going to mention is Glaucoma, according to Web MD last updated in 2015, Glaucoma is a condition that causes damage to your eye's optic nerve and gets worse over time. It's often associated with a buildup of pressure inside the eye. Glaucoma tends to be inherited and may not show up until later in life.

     Basically what my research is stating is that there is a major genetic component that contributes to this disease. There are three general types of hereditary Macular Degeneration. The first is called early onset. This is when you get it when you are four years of age up to seven. In this type both parents and their children can be affected. This means it is dominantly inherited. Most of the time this is called Best Disease or Viteliform Macular Degeneration.

The gene carrying the defect that produces albinism is recessive, which means that both parents must carry this recessive gene in order to produce a child with the condition. When both parents carry the gene (and neither has albinism), there is a one in four chance with each pregnancy that their child will have albinism. The inheritance pattern of ocular albinism is alittle different. This condition is X-linked, meaning that the recessive gene for ocular albinism is located on the X chromosome. X-linked ocular albinism appears just about only in males who inherit the condition from their mothers.

The glaucoma’s are a group of ocular disorders sharing a clinical phenotype characterized primarily by a bilateral, progressive degeneration of the optic nerve. Mutation analysis studies can be helpful for screening programs and prenatal diagnosis. In this study, in order to evaluate the prevalence and the diagnostic utility of mutation in CYP1B1 gene of, after DNA extraction from whole blood of patients affected by Glaucoma, we amplified CYP1B1 gene and evaluated by direct sequencing. Results of direct sequencing of the CYP1B1 gene shown that, six mutations, including two novel patho¬genic variants, were identified. CYP1B1 and LTBP1 are two effective gene in primary congenital glaucoma (PCG). Detection of 6 mutations in 10 patients is sign