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Figure 2 | BMC Medical Genetics

Figure 2

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

Figure 2

Fluorescein angiography at initial ophthalmic consultation (Late phase, A: Right eye & C: Left eye). The left eye was initially more affected than the right eye, showing multiple ill-defined hyperfluorescent lesions (as described within the boundaries of white circles), with a dark choroid impression. Fluorescein angiography was repeated at UCLA 14 months after initial consultation (Late phase, B: Right eye and D: Left eye). The angiogram revealed more lesions than were apparent by ophthalmoscopy. There was a marked progression in the number and size of the hyperfluorescent subretinal lesions and fibrotic scarring in the posterior pole and peripheral retina (As shown within the boundaries of red circles & ellipses to describe new lesions; white circles describe the old lesions for comparison). There was no extravasation of the dye in the late phase.

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BMC Medical Genetics

ISSN: 1471-2350

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