PMC9702330_01
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.
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F1
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).
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.
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F2
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).
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.
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F3
A family pedigree chart of the patient is shown in Figure 3.