Figure 1 | Scientific Reports

Figure 1

From: Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

Figure 1

Longitudinal optical coherence tomography (OCT) imaging in an LCA patient with AIPL1 c.666G>A (p.W222X)/c.834G>A (p.W278X) variants. (a) Transfoveal OCT image of the right eye at baseline. The yellow arrowheads mark the temporal and nasal borders of the external limiting membrane (ELM). There is extensive loss of photoreceptors and loss of the ellipsoid zone (EZ). The green arrowhead marks the residual EZ over the foveal center. The red borders mark the region of interest shown at higher magnification (× 2) in (b), where the ELM is marked with yellow arrowheads and the remnants of photoreceptors with a green arrowhead. After 2 years follow-up (c), no ELM or EZ remnants were identified and the retinal thickness was decreased compared to (b). Visual acuity was hand motion at 30 cm at baseline and perception of light at follow-up. yo; years old.

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