case_images: PMC10665509_01
case_images: Ophthalmic multimodal imaging of the patient. (A,B) showed vacuole-like vitreoretinal fibro-cellular membrane (white arrows), vascular sheathing (yellow arrows), choroiretinal atrophy and bone spicule pigmentation (blue arrows) on fundus photograph. (C,D) showed epiretinal membrane, loss and disruption of the photoreceptor layer and choroidal atrophy. (E-H) showed hyperreflective vacuole-like vitreoretinal abnormalities B-scan optical coherence tomography and low reflectance of vacuole-like membranes on the near-infrared imaging. (I,J) showed a strong echo of a flat notch in the B-ultrasound.
case_images: fgene-14-1278961-g001.jpg
case_images: PMC10665509_01_fgene-14-1278961-g001.jpg
case_images: F1
case_images: Bilateral post-capsular cataract, pepper-like retinal pigmentation was noted in both eyes, with white retinal vascular sheathing in the sub-temporal regions of the right eye (Figures 1A, B). Swept-source optical coherence tomography (OCT) showed bilateral choroidal capillary atrophy, loss of the outer retinal layer, especially in the ellipsoid zone. (Figures 1C-H). Near-infrared imaging revealed low reflectance of the vacuole-like epiretinal membrane (Figures 1E-H).
case_images: Magnetic resonance imaging showed confluent white matter abnormalities with hypointense T1-weighted (A) and hyperintense T2-weighted signals (B), with the symmetrical involvement of the posterior limbs of the internal capsules, splenium of the corpus callosum, midbrain cerebral peduncles, pons, middle cerebellar peduncles. Fluid attenuated inversion recovery T2 (C) and diffusion-weight imaging revealed hyperintensity in the involved areas. (D).
case_images: fgene-14-1278961-g002.jpg
case_images: PMC10665509_01_fgene-14-1278961-g002.jpg
case_images: F2
case_images: However, conventional magnetic resonance imaging (MRI) revealed confluent white matter abnormalities with hypointense T1-weighted and hyperintense T2-weighted signals, symmetrically involving the posterior limbs of the internal capsules, splenium of the corpus callosum, midbrain cerebral peduncles, pons, middle cerebellar peduncles (Figures 2A, B). T2 and diffusion-weight imaging revealed hyperintensity in the affected areas (Figures 2C, D). The patient's mother, father, and brother showed no abnormalities in their fundus (Supplementary Figure).
case_images: Pedigree (A) and sequencing chromatograms (B) of the family.
case_images: fgene-14-1278961-g003.jpg
case_images: PMC10665509_01_fgene-14-1278961-g003.jpg
case_images: F3
case_images: The patient's mother, father and brother were identified as heterozygous carriers of this mutation (Figures 3A, B).