PMC4153423_01
Pedigree of the multiplex family. Subjects with OI and the genotypes of tested subjects are indicated. Filled circles indicate the presence of POAG. Subject 1 is the proband (0001), and Subject 2 is 107.
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The patient had three siblings with OI, and one of them was deceased (Figure 1).
Optic nerve photographs of Subject 1 demonstrate characteristic glaucomatous optic nerve cupping.
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Dilated fundus examination revealed bilateral glaucomatous cupping (Figure 2).
Optic coherence tomography of the retinal nerve fiber layers reveals diffuse nerve fiber layer thinning in both eyes of Subject 1.
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Optical coherence tomography revealed diffuse loss of the retinal nerve fiber layer OU (Figure 3).
Humphrey visual fields (24-2 SITA-Standard) demonstrate early nasal field defects in both eyes of Subject 1.
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Humphrey visual fields demonstrated early visual field loss (Figure 4).
PMC4153423_02
Optic nerve photographs of Subject 2 demonstrate glaucomatous optic nerve cupping in both eyes.
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Dilated fundus examination revealed bilateral glaucomatous cupping (Figure 5).
Humphrey visual fields (24-2 SITA-Standard) of Subject 2 demonstrate a superior altitudinal defect involving fixation in the left eye and early visual field changes in the right eye.
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Humphrey visual fields demonstrated glaucomatous visual field loss consistent with the optic nerve exam (Figure 6).
PMC4153423_03
Humphrey visual fields (24-2 SITA-Standard) of Subject 3 indicate advanced visual field loss in the right eye and an inferior arcuate and superior nasal step in the left eye.
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Humphrey visual fields demonstrated advanced visual field loss OU (Figure 7).