Fundus Flavimaculatus

Fundus flavimaculatus (FFM) is the most common autosomal recessive macular dystrophy with an estimated prevalence of 1 in 10,000 individuals. STGD manifests in the first or second decade of life with decreased central vision, progressive bilateral atrophy of the retinal pigment epithelium, and the appearance of orangeyellow flecks distributed in the posterior pole, sometimes extending beyond the vascular arcade. A milder form of the same disorder, fundus flavimaculatus, has a later age at onset, slower progression, and more-widespread distribution of the flecks.

Tests Available

Forms and Documents

Test Details

ABCA4, ELOVL4, RDS (PRPH2)
  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing
  • Exon Array CGH

Ordering

908-STAR
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.54 Congenital folds and cysts of posterior segment
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Kitiratschky et al., (2008) Invest Ophthalmol Vis Sci 49:5015
  2. Hamel CP et al., (2007) Orphanet J Rare Dis (1)2:7
  3. Rivolta C et al., (2001) Hum Mutat 18: 488-498
  4. Freund CL et al., (1997) Cell. 91(4):543- 553
  5. Lotery AJ (2000) Arch Ophthalmol]. 118(4):538-43
  6. Sohocki et al., (2000) Mol Genet Metab 70:142–150
  7. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  8. Allikmets, et al (1998) Gene 215: 111-122
  9. Cremers F P M et al., (1998) Hum Molec Genet 7: 355-362
  10. Klevering B J et al., (2004) Eur J Hum Genet.12(12):1024-32
  11. Downes et al., (2001) Arch Ophthalmol 119:96-105
  12. Michaelides et al., (2005) Ophthalmology 112:1442-1447
  13. Kitiratschy et al., (2009) Human Mutation 30:E782-E796

Forms and Documents

Test Details

ABCA4, ELOVL4, RDS (PRPH2)
  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing
  • Next-Gen Sequencing

Ordering

466
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1 , 81408x1
No
Yes
  • 743.53 Chorioretinal degeneration, congenital
  • 743.54 Congenital folds and cysts of posterior segment
  • 743.55 Congenital macular changes
  • 362.76 Dystrophies primarily involving the retinal pigment epithelium, Fundus flavimaculatus, Vitelliform dystrophy
  • 362.75 Other dystrophies
  • 743.56 Other retinal changes, congenital
  • 362.74 Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

References

  1. Guymer et al., (2001) Arch Ophthalmol 119(5):745-51
  2. Gamundi MJ et al., (2007) Mol Vision 13:1031–1037
  3. Boon CJ et al., (2008) Prog Retin Eye Res 27:213-35
  4. Dryja et al., (1997) Invest Ophthalmol Vis Sci 38:1972–82
  5. Zhang et al., (2001) Nat Genet 27:89-93
  6. Bernstein et al., (2001) Invest Ophthal Vis Sci 42: 3331-3336
  7. Yatsenko et al, (2003) Hum Mutat 21(6):636-44
  8. Boon CJ et al., (2007) Br J Ophthalmol 91:1504-11
  9. Maugeri et al., (2004) Invest Ophthal Vis Sci 45:4263-4267
  10. Edwards et al., (1999) Am J Ophthalmol 127:426- 435
  11. Valverde et al., (2006) Mol Vis 12:902-908 19.Valverde D et al., (2007) Invest Ophthal Vis Sci 48:985-990
  12. Aleman et al., Invest Ophthalmol Vis Sci 48(3):1319-29
  13. Maugeri et al., (1999) Am J Hum Genet 64:1024-1035
  14. Klevering et al., (2005) Graefes Arch Clin Exp Ophthalmol 243(2):90-100
  15. Wiszniewski W et al., (2005) Hum Mol Genet 1:14(19):2769-78
  16. Rozetet al., (1998) Eur J Hum Genet 6(3):291-5
  17. Klevering et al., (2004) Eur J Hum Genet 12(12):1024-32
  18. Jaakson et al., (2003) Hum Mut 22:395-403
  19. Yatsenkoet al., (2001) Hum Genet 108:(4)346-55
  20. Rivera A et al., (2000) Am J Hum Genet 67:800-813
  21. Shroyer et al., (2001) Hum Molec Genet 10:2671-2678
  22. Allikmets et al., (2000) Am J Hum Genet 67:793-799
  23. Lewis et al., (1999) Am J Hum Genet 64:422-434
  24. De La Paz et al., (1999) Ophthalmology 106:1531-1536
  25. Stone EM et al., (1998) Nat Genet 20:328-329
  26. Cremers et al., (1998) Hum Molec Genet 7:355-362
  27. Allikmets et al., (1998) Gene 215: 111-122
  28. Allikmets et al., (1997) Science 19;277(5333):1805-7