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

Ordering

TG49
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81404x1 , 81408x1
No
Yes
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