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

  • 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


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

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81404x1 , 81408x1
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**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.