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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

Fig. 2

a Color fundus photography depicting optic disc atrophy of the temporal area is more pronounced in the index patient III:1 of family 1 than in her mother II:2. Corresponding retinal nerve fiber layer thickness analysis by optical coherence tomography demonstrating slight (yellow sectors) to significant reduction (red) in particular within the papillomacular bundle (PMB). b Ophthalmoscopic examination of the index patient II:1 of family 2 demonstrates bilateral temporal optic disc pallor and peripapillary optical coherence tomography demonstrates a thinning of the retinal nerve fibre layer most pronounced in the papillomacular bundle

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