Genetic Blindness In The RPE65 Gene

Improved Essays
Many people do not know that some 2,000 to 3,000 Americans suffer from a very rare inherited genetic blindness. This blindness is caused from a mutation in the RPE65 gene, which is located in the retina and makes a protein that is critical for normal vision. You inherit two of these genes from your parents. One from your mother and one from your father. This genetic blindness occurs when both the genes that are inherited contain mutations. This is why it is so rare. The patients first see signs of this blindness in infancy. The first thing to occur is development of tunnel vision and this can lead to total blindness as this mutation stays present. There is currently no drug to treat this disease, but hopefully that's about to change. On October

Related Documents

  • Improved Essays

    Marie-Laure's Blindness

    • 431 Words
    • 2 Pages

    “Werner is listening to the repaired transceiver, feathering the turning knob back and forth, when a girl’s voice says directly into his good ear: At three in the morning I was awakened by a violent blow. He thinks: It’s hunger, the fever, I’m imagining things, my mind is forcing the static to coalesce…” (390) Werner Pfennig, crouching with his headphones, is trying to find German frequencies in order to ask for rescue from the new collapsed Hotel of Bees where they are currently trapped. One of the crew tasked with finding Marie-Laure and Etienne’s “terrorist transmissions named Bernd was hit by a shell six hours prior. Then, he hears Marie-Laure, reading from Twenty Thousand Leagues Under The Sea, a beacon of hope that he pushes aside, thinking…

    • 431 Words
    • 2 Pages
    Improved Essays
  • Improved Essays
    • 825 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Those myths range from the sun blinding a fetus while in the womb, to thinking that the disease could have been brought from the outside world by contamination or a result of a curse. (pg 53). Achromatopsia is not a curse or a form of punishment due to sinning. It is an unpreventable, incurable hereditary disorder. The cause of this complete colorblindness lies in the genetics.…

    • 1116 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    There is always genetic testing that parents can do to see what their chances are of having the mutation. As said from the national organization of rare diseases. “Reportedly, the…

    • 1043 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    The genetic disorder could be fixed by gene therapy. To make the tissues and organs work correctly, genetic therapy needs a correct copy of the affected gene to try and eliminate…

    • 550 Words
    • 3 Pages
    Improved Essays
  • Improved Essays
    • 876 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Proteus Syndrome Analysis

    • 985 Words
    • 4 Pages

    Some neurological defects like hydrocephaly, lissencephaly, partial agenesis of the corpus callosum are also reported with the Proteus syndrome. 112 It may cause paraspinal hamartoma. 110 Protuberance of the skull, 113 structural and functional asymmetry of the central nervous system, 114 hydrocephalus and mental retardation are also some features of proteus syndrome. 113 Epilepsy and ohtahara syndrome is diagnosed in children affected by Proteus syndrome associated with infantile spasms, myoclonia, and partial epilepsy in newborn infants. 108 In Hutchinson-Gilford progeria syndrome (HGPS), diffuse encephalopathy, and Pseudotumor cerebri has been reported.…

    • 985 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Mrs. Schwieterman Biology 20 January 2016 Retinoblastoma Every single day, our cells are duplicating and replacing worn out cells. They are able to do this through the cell cycle in which genetic information is dulicated and split up forming new cells. During the cycle there are various checkpoints monitering the progress of the cell.…

    • 1161 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    ROP is a multifactorial disease. Low gestational age, low birth weight, sepsis, oxygen therapy, respiratory distress syndrome, and blood transfusion have been suspected to influence the incidence of ROP. The most significant risk factors for development of ROP were low gestational age and low birth weight, as shown in many studies. In our study, low gestational age, sepsis, oxygen therapy, and frequency of blood transfusions were found to be risk factors for development of ROP independently. Meanwhile, sex, mode of delivery, birth weight, respiratory distress syndrome, patent ductus arteriosus, intraventricular hemorrhage, hypotension, phototherapy, duration of oxygen therapy, mechanical ventilation, and CPAP were nonsignificant risk factors…

    • 318 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Optic Nerve Hypoplasia

    • 991 Words
    • 4 Pages

    Congenital optic nerve hypoplasia (ONH) is a condition in which one or both optic nerves are not fully developed, giving the appearance of abnormally small, pale optic nerve heads upon fundus examination (AAPOS, n.d.). In comparison to the size of the disc, the retinal blood vessels appear larger than normal, when in actuality the vasculature is of normal caliber (Kaur et al, 2013). This non-progressive developmental abnormality is typically characterized by a combination of neurological, behavioral, endocrine, and visual impairments without predilection for a particular sex, race, or socio-economic status (Kaur et al; Johnson, 2005). The prevalence of ONH in infants with severe vision loss, including blindness, is approximately 15-25 percent…

    • 991 Words
    • 4 Pages
    Improved Essays
  • Decent Essays

    About the Product: Diabetes is a disease that millions of people from all around the world| suffer from every day, and if it isn't properly controlled, thing can go bad, really bad. Some of the very bad things that can happen, because of letting diabetes get out of control, are blindness, kidney failure and even blindness. Most people don't know this until the actually get thedisease and don't treat it the right way on a daily basis. More people today suffer from diabetes than ever before.…

    • 533 Words
    • 3 Pages
    Decent Essays
  • Improved Essays

    For hundreds of years dwarfism has been a fascination of society. Historically people with dwarfism were used in circuses and sideshows because people were in awe of their stature and proportions. Dwarfism is most commonly caused by the genetic condition Achondroplasia, which accounts for 70% of all dwarfism cases and occurs in one out of every 25,000 live births (Pauli, 1998). Achondroplasia (ACH) is one of many genetic anomalies which causes the condition dwarfism it is an autosomal dominant condition but in about 80% of cases results sporadically from a G1138A mutation in the transmembrane receptor of the FGFR3 gene which is located on chromosome 4 (Liu et al., 2015). All people with achondroplasia have a single copy of the normal FGFR3…

    • 727 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    What Is Usher Syndrome?

    • 755 Words
    • 4 Pages

    Usher Syndrome Usher syndrome is a condition that causes hearing loss and vision loss. There are three types of Usher syndrome: Type 1. Children with this type have severe hearing loss and balance problems at birth. Vision problems usually develop before age 10, and vision loss quickly progress to total blindness. Type 2.…

    • 755 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    The genetic disorder of Progeria is a very rare disease that it does not occur often. Most of the time the genetic disorder of Progeria is not inherited. The genetic disorder is a progressive genetic disorder that cause children to age rapidly. The genetic disorder causes some very serious symptoms.…

    • 350 Words
    • 2 Pages
    Improved Essays