case_images: PMC8714969_01
case_images: Bilateral ptosis and facial atrophy.
case_images: OPTO-13-335-g0001.jpg
case_images: PMC8714969_01_OPTO-13-335-g0001.jpg
case_images: f0001
case_images: 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).
case_images: Family pedigree. = index-case female, our patient.
case_images: OPTO-13-335-g0002.jpg
case_images: PMC8714969_01_OPTO-13-335-g0002.jpg
case_images: f0002
case_images: The patient denied to have genetic testing, but we managed to establish the pedigree of her family (Figure 2).
case_images: 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.
case_images: OPTO-13-335-g0003.jpg
case_images: PMC8714969_01_OPTO-13-335-g0003.jpg
case_images: f0003
case_images: 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).