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Cystic lesions extending into the retina. A) Cysts involving the peripheral retina in the temporal quadrant or curvilinear demarcation lines and focal areas of retinal atrophy were occasionally seen in both PMEL17 mutation heterozygotes and homozygotes. B) Post-mortem specimen showing multiple demarcation lines (black arrows) extending towards the optic nerve head and an area where the retina is still detached (white arrow).
