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Figure 1 | BMC Medical Genetics

Figure 1

From: Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy

Figure 1

55 degrees autofluorescence (A: Right eye & C: Left eye) and optical coherence tomography (B: Right eye & D: Left eye) performed 6 months after initial consultation. The OCT scan line location is shown as a green line in the autofluorescence images (A & C). The deposits that appeared drusen-like on clinical exam were hyperfluorescent on autofluorescence imagery (A & C), indicative of RPE cell dysfunction. The OCTs revealed numerous subretinal lesions with different levels of elevation throughout the posterior pole. White arrows point to three “blister” like lesions, as seen by OCT. (B, right eye &D, left eye).

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