Ophthalmology in China

Previous Articles     Next Articles

Ocular manifestations and gene detection of transthyretin-related vitreous amyloidosis

Yang Qiong, Wang Hong, Mo Bin, Zhou Wenjia, You Bing, Wei Wenbin   

  1. Beijing Tongren Eye Center, Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
  • Received:2019-08-21 Online:2020-03-25 Published:2020-03-25
  • Contact: Wei Wenbin, Email: tr_weiwenbin@163.com
  • Supported by:
    Beijing Natural Scientific Research Fundation (7122042)

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