PMC3154131_01
Photographs of the optic discs of glaucomatous eyes and visual fields of the proband. The optic disc photograph shows that the neuroretinal rim was lost slightly in her inferior temporal optic disc sector. The left eye shows greater loss of neuroretinal rim (B, arrow) than the right eye (A). The visual field shows a nasal step in the right eye (C) and a superior arcuate scotoma in the left eye (D).
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The neuroretinal rim was lost slightly in her inferior temporal optic disc sector in the left eye and retinas appeared normal in both eyes (Figure 2A,B). Humphrey visual field testing showed a nasal step in the right eye and a superior arcuate scotoma in the left eye (Figure 2C,D).
PMC3154131_02
Photographs of the optic discs and visual fields of subject III-2. This fundus photography of the right eye shows a cup-disc ratio of 0.9 of the optic disc (A). Humphrey visual field testing of the right eye revealed a central island of vision (B). The visual field has remained stable during a period of eight years.
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Funduscopic examination revealed loss of neuroretinal rim and very deep excavation in both optic discs with a cup-disc ratio of 0.9 in her right eye (Figure 3A) and total excavation in her left eye (not shown). No significant changes in the visual field were observed during eight years (Figure 3B).
PMC3154131_03
Photographs of the optic discs, visual fields and OCT of the subject IV-2. Optic disc photographs show a cup-to-disc ratio of 0.5 in the right eye and 0.2 in the left eye (A and B). The arrow shows the slight loss of the neuroretinal rim in the inferior temporal optic disc sector of the right eye (A). The visual field showed a superior and inferior nasal depression in the right eye (C) and a superior nasal step in the left eye (D). The continuous black line represents the thickness of the RNFL of the right eye (E) and the dashed line the left eye (F). The bottom of the OCT image shows the RNFL thickness and superior image-related patient data (black line) with normative data obtained from a normal population (E and F). In both eyes, the black line is located within the green band, which is considered normal, but in some areas runs into the yellow band which is considered suspicious for glaucoma.
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His cup-disc ratio was 0.5 in the right eye and 0.2 in the left eye and the neuroretinal rim was lost slightly in his inferior temporal optic disc sector (Figure 4A, arrow) in the right eye. The visual field showed a superior and inferior nasal depression in the right eye and a superior nasal step in the left eye (Figure 4C,D, respectively). Stratus OCT showed a loss of RNFL in both eyes (Figure 4 E,F).
PMC3154131_04
PMC3154131_05
Photographs of the nails and radiographs of knees, hips and elbows of some of the subjects. Nail involvement in these cases includes dystrophic, thin, hypoplastic discolored nails with longitudinal ridges. Case III-2 shows decreased creases over the skin of distal interphalangeal joints, which is a sensitive sign of digital involvement in this patient (A). Thumbs are most severly affected in case III-7 (B), and IV-9 (C). The radiographs of knee involvement in Case III-2 shows bilateral involvement of the patella, with hypoplastic, higher than normal missplaced patella (D-F). A small 6 mm bone fragment can be observed on the lateral border of right patella (E). Knee radiographs of Case III-7 show slight bilateral patellar hypoplasia, mostly on the transverse diameter (G and H). Hip radiography of Case IV-2 shows loss of the normal concavity at the junction between the head and femoral neck bilaterally. The radiographs reveal an elbow involvement of subject IV-2 (J and K) and include a prominent medial epicondyle and hypoplasia of the capitellum on both sides (J and K). They also show a hypoplasia of the lateral epicondyle and capitellum with a slight deformity of the radial head (J and K). Underdeveloped triceps and prominent medial epicondyle are observed (L).
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Nail alterations in this case included hypoplastic thin and discolored nails; with loss of creases in the skin overlying the distal interphalangeal joints (Figure 5A). The knee antero-posterior view showed a misplaced patella, in a higher than normal position, which can be observed in both knees (Figure 5D-F). The right patella also has a small bone fragment of 6mm on the lateral side (Figure 5E). Nail alterations included small, hypoplastic and discolored nails (Figure 5B). There was slight bilateral patellar hypoplasia, mostly on the transverse diameter (Figure 5G,H). The hip radiograph showed loss of the normal concavity at the junction between the head and femoral neck bilaterally (Figure 5I). The antero-posterior X-rays of the elbows of this patient showed hypoplasia of the capitellum and of the lateral epicondyle and a prominent medial epicondyle on both sides (Figure 5J,K). Clinical examination also showed an underdeveloped triceps (Figure 5L).