PMC8714969_01
Bilateral ptosis and facial atrophy.
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On inspection, symmetrical ptosis was noted, as well as facial atrophy and when she was asked about her family history, after a thorough review, she reported that 4 members of her family (her father, her brother, her daughter and herself) had "problems with moving their eyes" as she also had from a young age (Figure 1).
Family pedigree. = index-case female, our patient.
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The patient denied to have genetic testing, but we managed to establish the pedigree of her family (Figure 2).
Visual fields of the right eye showing a significant general reduction of sensitivity and left eye showing a mild general reduction of sensitivity with a small central island of vision of about 5 degrees.
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Humphrey visual fields revealed a significant general reduction of sensitivity in the right eye and a milder general reduction of sensitivity with a small central island of vision of about 5 degrees in the left eye (Figure 3).