PMC8818993_01
Ophthalmic examination before the first operation. Anterior segment examination showed white vitreous opacities (footplates) adhering to the posterior lens capsule. B-scan ultrasonography revealed that the glass-wool vitreous opacities were almost completely detached except for the local adhesion to the retina and optic disc. (A,C) Right eye; (B,D) left eye.
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F1
The anterior segment examination showed white vitreous opacities (footplates) adhering to the posterior lens capsule (Figures 1A,B). The B-scan ultrasonography revealed that the glass-wool vitreous opacities were almost completely detached except for the local adhesion to the retina and optic disc (Figures 1C,D).
Images of the funds and the first operation. (A) Color fundus image was very blurred before vitrectomy in the left eye; (B) Fibrillary and stiff vitreous opaque in the right eye; (C) As much of peripheral vitreous was removed as possible; (D) Normal fundus in the left eye 1 week after vitrectomy.
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F2
The color fundus image was very blurred, showing no details of the fundus (Figure 2A). The opaque vitreous was fibrillary and stiff (Figure 2B). The peripheral vitreous was removed as much as possible during the vitrectomy (Figure 2C). Color fundus photography revealed a normal retinal vasculature (Figure 2D).
PMC8818993_02
Histopathological examination and transthyretin (TTR) gene sequencing. (A) Hematoxylin-eosin (H&E) staining revealed degeneration vitreous; (B) Congo-red staining positive revealed amyloid vitreous; (C) The patient was heterozygous for a TTR c.165 G>C mutation and his second son carried the same mutation; (D) Pedigree of the family.
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F3
Histopathological examination revealed acellular eosinophilic materials with hematoxylin-eosin (H&E) stain (Figure 3A) and a very strong positive red stain of the vitreous amyloid with Congo-red stain (Figure 3B). TTR gene single nucleotide substitution c.165 G>C in exon 2, resulting in the replacement of lysine with asparagine at position 55 of the mature protein, that is, p.Lys55Asn (Figure 3C). The proband's two sons and brother received pedigree testing, which revealed that the second son carried the same mutation and the others were normal (Figures 3C,D).
Images of the recurrent vitreous amyloidosis. Anterior segment images showed opaque nuclear with white heterogeneous opacity adhered to the posterior lens capsule. Optical coherence tomography (OCT) showed fern-like material adhering to the posterior pole retina surface. (A,C,E) Right eye; (B,D,F) left eye. (G) Color-Doppler ultrasound showed a dome shape temporal elevation of the retina with increased echo density in the right eye.
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F4
The lens nucleus was opaque in both eyes (nuclear sclerosis grade of 2), with white heterogeneous opacities adhered to the posterior lens capsule (Figures 4A-D). Optical coherence tomography (OCT) revealed fern-like material adhering to the posterior pole retinal surface in both eyes (Figures 4E,F). A dome shape temporal elevation of the retina with increased echo density was noted with a color Doppler ultrasound (Figure 4G).