case_images: PMC9702330_01
case_images: Clinical examination of the eyes at different times. (A,B) B-scan ultrasound shows opacified but otherwise normal-shaped lenses in both eyes before cataract surgeries. (C) B-scan ultrasound shows opacified vitreous 1 year after the cataract surgery; (D) ultrasound biomicroscopy (UBM) shows hyperechogenic dots in the anterior chamber; (E) fundus photography reveals hazy vitreous and congested optic nerve head; (F) venous phase of fluorescein angiography shows leakage of retinal capillaries and a hyperfluorescent optic nerve head.
case_images: fgene-13-934829-g001.jpg
case_images: PMC9702330_01_fgene-13-934829-g001.jpg
case_images: F1
case_images: Ultrasonography demonstrated multiple hyperechogenic dots in the anterior chamber and vitreous opacity, indicating inflammation (Figures 1A,B). Wild-field fundus photography revealed a congested optic nerve head through the opacified vitreous (Figure 1C). Fluorescein angiography showed the retinal capillaries and hyperfluorescent optic disc leakage at the venous phase (Figure 1D).
case_images: Pathological and genetic findings of the patient and the ocular findings after the treatment with steroids. (A,B) Electron microscopic analysis of a renal biopsy shows mesangial proliferation and thickening of the glomerular basement membrane (asterisks); (C) WES revealed that a deletion encompassing exon 1 of COL4A5 and exons 1 and 2 of COL4A6 was found in the patient. The red box indicates exon 1 of COL4A5, intron 1, and exons 1 and 2 of COL4A6. The top panel and bottom panels show the copy number of COL4A5 and COL4A6 from a normal individual and the patient, respectively; (D) B-scan ultrasound reveals a clear vitreous 1 month after treatment with steroids; (E) fundus photography shows resolved vitreous opacity and a clear optic nerve head.
case_images: fgene-13-934829-g002.jpg
case_images: PMC9702330_01_fgene-13-934829-g002.jpg
case_images: F2
case_images: Electron microscopic analysis of a renal biopsy showed mesangial proliferation and thickening of the glomerular basement membrane (Figures 2A,B). NC_000023.11:g.(107681122_107683515)del) encompassing exon 1 of COL4A5 and exons 1 and 2 of COL4A6 (Figure 2C) was found, which was confirmed by multiplex ligation-dependent probe amplification (MLPA). No hearing abnormalities were detected by audiometry. Congestion of the optic nerve head was resolved, as shown in fundus photography (Figure 2D).
case_images: Family pedigree chart of the patient. An affected family member is indicated with filled symbols; unaffected relatives are indicated by open symbols; a heterozygous carrier is indicated with a dot in the middle of the symbol. Arrows indicate the proband. Numbers are allotted to the family members whose DNA samples were used in this study.
case_images: fgene-13-934829-g003.jpg
case_images: PMC9702330_01_fgene-13-934829-g003.jpg
case_images: F3
case_images: A family pedigree chart of the patient is shown in Figure 3.