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. 2018 Aug 7;91(6):e571–e585. doi: 10.1212/WNL.0000000000005950

Figure 2. Family with microcephaly lymphedema chorioretinal dysplasia.

Figure 2

(A) Family tree. (B–I) Clinical signs of patient 17. (B) Facial features include broad nose with rounded tip, long philtrum with thin upper lip, and prominent ears. (C) MRI shows an anatomically normal but microcephalic brain. (D) Lymphedema of the feet. (E) Horizontal eye movement recordings demonstrate horizontal jerk nystagmus with increasing slow phase velocities (upward deflections indicate eye movements to the right, a downward deflection indicates eye movements to the left). (F) Macular handheld (HH) optical coherence tomography (OCT) displays foveal hypoplasia and mild macular elevation (open square). There is thinning of the retinal pigment epithelium (RPE) and hyperreflectivity underlying the RPE (brackets), and there are abnormal hyperreflective interfaces between the retinal nerve fiber layer and ganglion cell layer (arrow). (G) Normal optic nerve on HH-OCT. (H) In the posterior pole, there is mild retinal vascular tortuosity. (I) Peripheral chorioretinal atrophic lacunae (white oval).