Figure 1.
Fundus Autofluorescence Images of ABCA4-Associated Retinopathy Cases Harboring c.5196+1137G>A
FAF images of patients harboring c.5196+1137G>A in trans with different groups of alleles. Classification of in transABCA4 alleles was performed previously based on electrophysiology.7 (A) Note the increasing retinal degeneration (no flecks, fleck outside the arcades, absorbed flecks, chorioretinal atrophy) in patients harboring c.5196+1137G>A in trans with null, when arranged by age. (B and D) Relatively milder phenotypes can be observed in patients harboring c.5196+1137G>A in trans with intermediate alleles c.5714+5G>A, p.L2027F and p.[G863A, G863del] (B) and in the homozygous state (D), even at older ages. (C) Patients harboring c.5196+1137G>A in trans with alleles of unknown severity arranged by age exhibiting various FAF patterns.