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Norrie's Disease

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Lauren Mehalek

on 9 February 2016

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Transcript of Norrie's Disease

Norrie's Disease Defined Norrie's Disease is a congenital abnormality. Blindness at birth, with bilateral retinal pseudotumor, retinal detachment, phthisis(ty-sis), deafness, and intellectual disabilities (Cassin and Rubin) Lauren Mehalek
and Dan Ackley Image 1: http://faculty.alverno.edu/bowneps/BI%20231%20course%20documents/Anatomy%20sheets/Sensory%20Organs_files/eye.JPG Abnormal development of the retina and immature retina cells develop on the back of the eye... ...causing the pupils to appear white when light is shone on them (Norrie's Disease, 2007). Image 1 Image 1 Image 2 Image 1: http://faculty.alverno.edu/bowneps/BI%20231%20course%20documents/Anatomy%20sheets/Sensory%20Organs_files/eye.JPG
Image 2: http://o.quizlet.com/i/c8mvwLT6_MsO6iuBxoN0Bw_m.jpg -Causes- Norrie's Disease is a genetic disorder caused by the mutation of an X-chromosome, making the disease much more common amongst the male population (Norrie's Disease, 2007). Norrie Disease
Association Mission Statement: NDA exists to promote awareness about and provide resources for those with Norrie Disease (ND) and their family members

NDA provides links to additional resources for support, activities, and educational resources for people with visual impairments. OVERVIEW Norrie's Disease Congenital: present at birth, as a congenital anomaly or defect.
Bilateral: having two sides, occurring or appearing on two sides or having two layers.
Retinal: pertaining to the retina.
Pseudotumor: a false tumor. Retinal Detachment: a separation of the retina from the retinal pigment epithelium in the back of the eye.
Phthisis(Ty-sis): any wasting disease involving all or part of the body, such as pulmonary tuberculosis.
X-linked: pertaining to genes or to the characteristics or conditions they transmit that are carried on the x chromosome.
XX: female XY: male Medical Language/Terminology Medical Language/Terminology Age of Onset is at birth
or at a very young age. -Age of Onset- Norrie disease is a rare X-linked genetic disorder which causes males to be totally blind at birth or become blind in both eyes at a young age. Most males with Norrie disease experience hearing impairment and up to half of males with the disorder also have developmental delays, intellectual disabilities, or behavioral abnormalities. Norrie disease runs in families because it is passed down through one of the chromosomes that determines gender (X-chromosome). Norrie's Disease: What is it? (Norrie Disease Association) Details Of The Disease Details Of The Disease Anatomical Structure Anatomical Structure (Norrie Disease Association) Congenital blindness(primary symptom)
Deafness
Intellectual disabilities
Yellowish mass visible
behind the lens
This is Pseudotumor of the retina
Developmental delays
Cognitive problems
Behavioral abnormalities -Common Symptoms- Details Of The Disease (Norrie Disease Association) -Treatment- Details Of The Disease (Norrie Disease Association) Patients who have not completely lost their vision may be treated with surgery or laser therapy in infancy. Hearing loss can be treated with hearing aids and cochlear implants. Behavioral abnormalities and intellectual disabilities can be treated through counseling, medications, and care by special education professionals. Men with Norrie disease may need varying degrees of assistance from family, friends and caretakers, but lead full and
rewarding lives. Otherwise healthy mothers may carry a mutated gene which causes the disease. These mothers may pass the gene on to their sons, who then develop the disease. Some sons, however, will not receive the gene and will grow up to be completely healthy. There is a 50% statistical risk of a carrier mother passing on the mutated X-chromosome. Norrie's Disease: What is it? (Norrie Disease Association) A daughter may also receive the mutated gene if her mother is a carrier. Again the statistical risk to the daughter of inheriting the mutated X-chromosome is 50%. If the daughter inherits the Norrie gene, she will become a carrier, and like her mother, have a 50% chance of passing the gene on to her own children. Because the risk of inherited the disease mutation in a daughter is 50%, half of the daughters of carriers do not even inherit the gene. These females will be completely normal and will not pass the Norrie gene on to their children.
Sometimes males with Norrie disease have children. No sons of these men will inherit the gene and, therefore, can not develop the disease. Daughters of a father with Norrie disease, on the other hand, will all be carriers of the mutated gene.
It is possible, but extremely rare, for Norrie disease to occur by spontaneous gene mutation. In this case, neither parent carries Norrie mutation and genetic risk in this family is limited to offspring of the person with the gene mutation [male or female]. (Norrie Disease Association) -Prognosis- Details Of The Disease Although Norrie disease itself does not seem to shorten lifespan, individuals with blindness, deafness and/or intellectual disabilities may have a reduced lifespan as a result of these conditions.
Norrie disease affects each individual differently, even within the same family, as there is a spectrum of symptoms and severity. --Other Implications- Details Of The Disease Resources Patient may develop cataracts, leudocoria(a condition where the pupils appear white), shrinking of the globe of the eye, and the wasting away of the iris.
(Norries Disease 2007) Clicker Question #1 Clicker Question #3 Clicker Question #2 Norrie's Disease
History 1961 Mette Warburg-Danish Opthalmologist-

She found that a Danish family showed seven different cases of a hereditary disease throughout seven generations. She suggested the disease be named after Gordon Norrie, another famous Danish opthalmologist (McKusik 1986). Norrie's Disease
History Mette Warburg Gordon Norrie A rare form of hereditary blindness (Norrie Disease Association) Norrie's Disease Lauren Mehalek
and Dan Ackley Conclusion Are there any questions? (Elsevier 2009) (Elsevier 2009) Educational Implications Because of vision loss, some students with Norries syndrome may need to access text through touch or tactile reading, this can be done by learning braille

Some students with Norries syndrome may also need accommodations at school to reach their full learning potential which can often be done through special education services


(Bowman, Bowman, Dutton 2001). 1. Norrie’s disease is caused by a mutation of the…
a.Y chromosome
b.X chromosome
c.Uveal tract
d.Zonules of Zinn 2. All of the following are symptoms of Norrie’s disease, except:

a. Blindness present at birth

b. Intellectual disabilities

c. Frequent blood clotting

d. Deafness/hearing loss 3. Treatment of Norrie’s disease may include

a. Surgery and laser therapy

b. No known treatments

c. Cognitive behavioral therapy

d. Stem cell research Functional Implications
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