PMC6883380_01
Electroretinographic findings in twin sisters (patient 1 and patient 2) with PMM2-CDG at the age of 4 years (A), . 18 years (B) and 41 years (C).. A: 1980: Adapto ERG revealed decreased amplitudes, more obvious for patient 2. . B: 1995: On adapto ERG, repsonses were entirely extinguished bilaterally. This exam was now completed with an ERG using the ISCEV standard; no recordable dark adapted or light adapted response was observed. . C: 2018: ERG revealed unchanged findings.
OC-09-37-g-001.jpg
PMC6883380_03_OC-09-37-g-001.jpg
F1
The ERG examination showed completely extinguished traces for both eyes, as at the age of 18 (Figure 1C (Fig. 1)).
PMC6883380_02
Electroretinographic findings in twin sisters (patient 1 and patient 2) with PMM2-CDG at the age of 4 years (A), . 18 years (B) and 41 years (C).. A: 1980: Adapto ERG revealed decreased amplitudes, more obvious for patient 2. . B: 1995: On adapto ERG, repsonses were entirely extinguished bilaterally. This exam was now completed with an ERG using the ISCEV standard; no recordable dark adapted or light adapted response was observed. . C: 2018: ERG revealed unchanged findings.
OC-09-37-g-001.jpg
PMC6883380_03_OC-09-37-g-001.jpg
F1
The ERG examination showed completely extinguished traces for both eyes, as at the age of 18 (Figure 1C (Fig. 1)).
Fundus appearance in twin sisters with PMM2-CDG at the age of 18 and 41 years.. (A,B) At the age of 18 years, a pink aspect of the optic discs and a moderate narrowing of the vasculature could be seen in addition to bony spicule pigmentary deposits in the mid peripheral retina, both in patient 1 (A) and patient 2 (B). In patient 1, a wrinkling of the macular retinal surface was noticed (A). . (C,D) At the age of 41 years, findings of fundoscopy had remained the same for patient 1 (C) and patient 2 (D).
OC-09-37-g-002.jpg
PMC6883380_03_OC-09-37-g-002.jpg
F2
Findings of fundoscopy remained unchanged: pink optic discs, moderately narrowed blood vessels and bony spicule pigmentary deposits in the mid periphery (Figure 2C,D (Fig. 2)).
PMC6883380_03
Electroretinographic findings in twin sisters (patient 1 and patient 2) with PMM2-CDG at the age of 4 years (A), . 18 years (B) and 41 years (C).. A: 1980: Adapto ERG revealed decreased amplitudes, more obvious for patient 2. . B: 1995: On adapto ERG, repsonses were entirely extinguished bilaterally. This exam was now completed with an ERG using the ISCEV standard; no recordable dark adapted or light adapted response was observed. . C: 2018: ERG revealed unchanged findings.
OC-09-37-g-001.jpg
PMC6883380_03_OC-09-37-g-001.jpg
F1
The ERG examination showed completely extinguished traces for both eyes, as at the age of 18 (Figure 1C (Fig. 1)).
Fundus appearance in twin sisters with PMM2-CDG at the age of 18 and 41 years.. (A,B) At the age of 18 years, a pink aspect of the optic discs and a moderate narrowing of the vasculature could be seen in addition to bony spicule pigmentary deposits in the mid peripheral retina, both in patient 1 (A) and patient 2 (B). In patient 1, a wrinkling of the macular retinal surface was noticed (A). . (C,D) At the age of 41 years, findings of fundoscopy had remained the same for patient 1 (C) and patient 2 (D).
OC-09-37-g-002.jpg
PMC6883380_03_OC-09-37-g-002.jpg
F2
Findings of fundoscopy remained unchanged: pink optic discs, moderately narrowed blood vessels and bony spicule pigmentary deposits in the mid periphery (Figure 2C,D (Fig. 2)).
OCT examination in twin sisters with PPM2-CDG at the age of 41. For patient 1 (A) and patient 2 (B), severe attenuation of the outer retina starting from the perimacular area is shown. In the central macular area, the normal outer retinal structure was preserved. Drusenoid like changes can also be observed, more obvious in the second patient.
OC-09-37-g-003.jpg
PMC6883380_03_OC-09-37-g-003.jpg
F3
Drusenoid-like changes could also be observed, more obvious in the second patient (Figure 3A,B (Fig. 3)).