Macular Dystrophies Ch 9

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angelletta
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112356
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Macular Dystrophies Ch 9
Updated:
2011-10-26 13:33:40
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Macular Dystrophies
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Chapter 9 Macular Dystrophiesm
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  1. Most common cause of central vision loss in adults (hereditary macular dystrophy) under age 50
    Stargardts Disease
  2. Stargarts Inheritence
    AR
  3. Genes responsible for Stargardts and what does it encode?

    Name some other genes
    • ABCA4
    • encodes an ATP binding cassette (ABC) transporter protein expressed by outer rod segments

    • STGD4
    • ELOVL4
    • RDS/peripherin gene
  4. Describe fundus appearance of Stargarts
    • yellow round pisciform flecks at level of RPE
    • beaten bronze central macular appearing like bulls eye maculopathy
  5. What does the FA look like in Stargarts and why
    Dark choriod, due to lipofuscin accumulation in the RPE
  6. Best's Disease inheritance pattern
    AD
  7. Best disease gene mutations, chromosome and abnormality
    • gene- VMD2 bestrophin gene
    • chromosome- 11
    • abnormality- plasma membrane of RPE affecting transmembrane chloride channel leading to lipofusion accumulation secondary to abnormal ion flux
  8. What is a complication of Best's Dz
    CNV leading to loss of vision
  9. ERG and EOG in Best's Disease.
    What is the Arden ratio? What is a normal value?
    • ERG: normal
    • EOG: abnormal
    • Best Dz: Arden ratio <1.5
    • Normal Arden ratio 1.85
  10. What is a dz similar to Best's Dz, but occurs in adults?
    Adult onset foveomacular vitelliform dystrophy (type of pattern dystrophy)
  11. Age of onset of Adult onset foveomacular vitelliform dystrophy (type of pattern dystrophy)
    40-50's
  12. EOG finding in Adult onset foveomacular vitelliform dystrophy (type of pattern dystrophy)
    NORMAL
  13. What can develop in patients with cuticular basal laminar drusen?
    Vitelliform exudative macular detachments
  14. Name the 2 types of Familial Autosomal Dominant Drusen
    • Doynes's Honeycomb Dystrophy
    • Malattia Levntinese
  15. Familial Autosomal Dominant Drusen gene and chromosome
    • gene-EFEMP1
    • Chromosome-2
  16. Familial Autosomal Dominant Drusen findings
    various basal laminar or cuticular drusen beyond the vascular arcades and nasal to optic disc
  17. What characterized the Pattern Dystrophies?
    group of dz with central pigmentary disturbances with at the level of RPE in macular area
  18. Name the 4 types of PATTERN DYSTROPHIES
    • BUTTERYFLY
    • RETICULAR
    • ADULT ONSET FOVEOMACULAR VITELLIFORM
    • FUNDUS PULVERULENTIS
  19. 1. ERG/ EOG in PATTERN DYSTROPHY
    2. GENE AFFECTED
    • NORMAL- ERG
    • ABNORMAL- EOG except in Adult vitelliform
    • GENE-RDS/PERIPHERIN
  20. PATTERN DYSTROPHIES symptoms
    • -decreased visual acuity
    • -metamorphopsia

    -versus asymptomatic with unususal macular lesion with risk of CNV in the future
  21. What dz is characterized by bilateral CNV prior to age 40
    Sorsby Macular Dystrophy
  22. Name the following in Sorsby Macular Dystrophy

    Inheritance
    Gene
    Chromosome
    Defect
    • Inheritance-AD
    • Gene TIMP3
    • Chromosome 22
    • Defect: tissue inhibitor of metalloproteinase involving extracellar matrix remodeling
  23. Fundus finding in Sorsby Macular Dystrophy
    early
    mid
    late
    • early: fine drusenlike deposits or confluent plaque of faintly yellow material beneath the RPE of posterior pole
    • mid-GA with pigment clumps
    • late- CNV disciform scar

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