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?
- Increased risk for keratoconus
What is trisomy 18 called?
What are typical signs of edward's syndrome?
- Rocker-bottom feet
- Low set ears
- Wide-set nipples
- Sever mental retardation
What is XXY syndrome?
What is the most common cause of male primary hypergonadism and gynecomastia?
What is XO syndrome?
What are common ocular signs of turner's syndrome?
- Reduced accommodation
What are 3 systemic signs of turner's syndrome?
- Webbing of neck
- No menses
- Heart problems
What are 4 systemic autosomal dominant disorders?
- 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?
What chromosome is affected with neurofibromatosis?
What chromosome is affected with marfan's disease?
What chromosome is affected with huntington's chorea?
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
- 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?
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
What are ocular findings seen in osteogenesis imperfecta?
- Blue sclera
- 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
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