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genetic disorders NBEO.txt
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What is the most common chromosomal defect?
Trisomy 21, Down's syndrome
What are typical ocular findings in down's syndrome?
Glaucoma
Strabismus
Increased risk for keratoconus
What is trisomy 18 called?
Edward's syndrome
What are typical signs of edward's syndrome?
Rocker-bottom feet
Low set ears
Wide-set nipples
Microphthalmos
Sever mental retardation
What is XXY syndrome?
Kleinfelter's syndrome
What is the most common cause of male primary hypergonadism and gynecomastia?
Klinefelter's syndrome
What is XO syndrome?
Turner's syndrome
What are common ocular signs of turner's syndrome?
Strabismus
Amblyopia
Reduced accommodation
CI
What are 3 systemic signs of turner's syndrome?
Webbing of neck
No menses
Heart problems
What are 4 systemic autosomal dominant disorders?
Neurofibromatosis
Marfan's syndrome
Huntington's chorea
Familial adenomatous polyposis
Which disease is defined by lich nodules and caf? au lait spots?
Neurofibromatosis type 1
Which type of neurofibromatosis has neurofibromas?
Type 2
What chromosome is affected with neurofibromatosis?
17
What chromosome is affected with marfan's disease?
15
What chromosome is affected with huntington's chorea?
4
What is huntington's chorea?
Gradual onset of involuntary muscle movements and dementia
What is the disease associated with multi-focal CHRPEs?
Familial adenomatous polyposis
What are 4 systemic autosomal recessive diseases of note?
Sickle-cell anemia
Cystic fibrosis
Phenylketonuria
Tay sach's disease
What are common ocular pathologies found in sickle-cell anemia?
Retinal arteriole occlusion
Sea fan proliferative retinopathy
What biochemical is substituted for what in sickle-cell anemia
VALine is substituted for GLUtamic acid
What is the most common lethal genetic dz among Caucasians?
Cystic fibrosis
What is an ocular finding in tay sach's disease?
Cherry red macula
What are signs of fragile X syndrome?
Enlarged testicles
Long face/ears
Autism
What are ocular findings seen in osteogenesis imperfecta?
Blue sclera
Keratoconus
Megalocornea
Abnormal collagen synthesis
Name 2 systemic diseases that are mitochondrial disorders?
Leber's hereditary optic neuropathy
Kearns-sayre syndrome
What are ocular signs seen in kearns-sayre syndrome?
Progressive external ophthalmoplegia
Salt and pepper retinopathy
Author
cjensen20
ID
297059
Card Set
genetic disorders NBEO.txt
Description
genetic disorders NBEO optometry
Updated
2015-02-28T00:26:36Z
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