PMC8254661_01
Sibling 1. A: The appearance of the right eye retina is normal. B: The slit-lamp examination of the right eye shows fine white opacities; these were in both eyes and not visually significant. C: The appearance of the left eye retina is normal. D, E: Macular spectral-domain optical coherence tomography (SD-OCT) of the right and left eyes reveals subtle findings, which are shown with magnification in G: The hyporeflective band (outer segments; OS) normally seen in the parafoveal area between the hyper-reflective layers associated with the inner/outer segment junction (IS/OS) and the RPE/Bruch's membrane (RPE/BM) complex is not seen; in addition, the RPE/BM layer has a blurred rather than a sharp appearance. F: Short-wave autofluorescence of the right eye is normal. G: Enlargement of right eye SD-OCT with control. H: Short-wave autofluorescence of the left eye is normal.
mv-v27-396-f2.jpg
PMC8254661_01_mv-v27-396-f2.jpg
f2
Slit-lamp examination was notable for rare fine white lens opacities in both eyes that were not visually significant (Figure 2B). Retinal appearance and short-wave autofluorescence were unremarkable (Figure 2A,C,F,H). Macular spectral-domain optical coherence tomography (SD-OCT) revealed subtle abnormalities (Figure 2D,E,G). ffERG showed normal waveforms with mildly decreased photopic amplitudes (Table 1). pERG showed a decreased P50 amplitude (and thus, a decreased downstream N95 amplitude; Figure 3A).
Siblings 1, 2, 3, and control. A, B, C: Pattern electroretinograms of the right eyes of siblings 1, 2, and 3 show a decreased P50 amplitude (and a decreased downstream N95 amplitude), indicative of macular photoreceptor dysfunction. The left eyes were similar. D: The right eye of a control subject.
mv-v27-396-f3.jpg
PMC8254661_03_mv-v27-396-f3.jpg
f3
Ophthalmic examination and multimodal imaging were similar to that of her two siblings (Siblings 1 and 2). ffERG showed normal waveforms with a decreased photopic flicker amplitude in the left eye (Table 1). pERG showed a decreased P50 amplitude (and thus, a decreased downstream N95 amplitude; Figure 3C).
PMC8254661_02
Siblings 1, 2, 3, and control. A, B, C: Pattern electroretinograms of the right eyes of siblings 1, 2, and 3 show a decreased P50 amplitude (and a decreased downstream N95 amplitude), indicative of macular photoreceptor dysfunction. The left eyes were similar. D: The right eye of a control subject.
mv-v27-396-f3.jpg
PMC8254661_03_mv-v27-396-f3.jpg
f3
Ophthalmic examination and multimodal imaging were similar to that of her two siblings (Siblings 1 and 2). ffERG showed normal waveforms with a decreased photopic flicker amplitude in the left eye (Table 1). pERG showed a decreased P50 amplitude (and thus, a decreased downstream N95 amplitude; Figure 3C).
Sibling 2. Full-field electroretinography tracings (upper scotopic, bottom photopic) show normal scotopic (rod) function and mildly decreased photopic amplitudes (cone function). Rectangular blocks outline the upper and lower limits of normal values. Stimuli (DA, dark-adopted; LA, light-adapted) were as follows: upper left DA flash 0.01 cd s m2, upper right DA flash 3.0 cd s m2, lower left LA flash 3.0 cd s m2, and lower right LA 0.0 cd s m2, flicker at 30 Hz.
mv-v27-396-f4.jpg
PMC8254661_02_mv-v27-396-f4.jpg
f4
The ophthalmic examination, retinal multimodal imaging, and ERG results were similar to those of her affected brother (Sibling 1). ffERG showed normal waveforms with mildly decreased photopic amplitudes (Table 1, Figure 4). pERG showed a decreased P50 amplitude (and thus, a decreased downstream N95 amplitude; Figure 3B).
PMC8254661_03
Siblings 1, 2, 3, and control. A, B, C: Pattern electroretinograms of the right eyes of siblings 1, 2, and 3 show a decreased P50 amplitude (and a decreased downstream N95 amplitude), indicative of macular photoreceptor dysfunction. The left eyes were similar. D: The right eye of a control subject.
mv-v27-396-f3.jpg
PMC8254661_03_mv-v27-396-f3.jpg
f3
Ophthalmic examination and multimodal imaging were similar to that of her two siblings (Siblings 1 and 2). ffERG showed normal waveforms with a decreased photopic flicker amplitude in the left eye (Table 1). pERG showed a decreased P50 amplitude (and thus, a decreased downstream N95 amplitude; Figure 3C).