关键词: 玻璃体淀粉样变性, 甲状腺素转运蛋白基因, 玻璃体切除术

Abstract: Objective To describe ocular manifestations and gene detection results in transthyretin (TTR) -related vitreous amyloidosis. Design Retrospective case series. Participants Four cases with TTR-related vitreous amyloidosis performed vitrectomy. Methods The clinical features with slit lamp, ophthalmoscope, intraocular pressure(IOP), best corrected visual acuity(BCVA) and ultrasound were reviewed. Subjects’ venous blood was collected and DNA was extracted, whole exons of TTR gene were amplified with polymerase chain reaction (PCR). 25G vitrectomy was performed. The vitreous humor was examined for HE staining and pathological diagnosis. Main Outcome Measures TTR sequencing results, and clinical manifestation. Results 2 male cases with average age of (50.5±8.4) years old in all 4 cases. The vitreous opacity was the main manifestation in all cases. Direct sequencing revealed the heterozygous mutation in TTR Tyr134Cys, Lys55Asn, Tyr89His, Gly103Arg in 4 patients. Vitreous pathology revealed that the vitreous humor was stained with amorphous amyloid. The BCVA of the 5 eyes before surgery were from HM to 0.1 and after surgery were from 0.1 to 0.7. IOP was normal before and after vitrectomy. Conclusion TTR gene mutation may cause vitreous amyloidosis. Genetic and pathological testing are key diagnostic evidence for TTR-related vitreous amyloidosis. Vitrectomy can improve vision of TTR-related vitreous amyloidosis. （Ophthalmol CHN， 2020, 29： 114-117）

Key words: vitreous amyloidosis, transthyretin gene, vitrectomy