Long-term follow-up of retinal amyloid angiopathy in a large Chinese family with hereditary amyloid transthyretin.

BACKGROUND

Retinal amyloid angiopathy (RAA) is an ocular manifestation of hereditary amyloid transthyretin (hATTR). We aimed to investigate the characteristics of disease progression of RAA in patients with ATTR Gly83Arg amyloidosis and evaluate the effect of RAA on vision.

METHODS

We observed the clinical records of 131 individuals from a seven-generation Chinese family. In this family, 18 symptomatic patients were our followers. And the follow-up was 61.6 ± 47.5 months (range, 1-164; median, 48 months). RAA was diagnosed after vitrectomies based on fundus fluorescein angiography (FFA). Best-corrected visual acuity (BCVA), intraocular pressure, fundus examination outcomes, and FFA outcomes at each follow-up visit were the indicators we focused on.

RESULTS

The prevalence of RAA was 88.9% (32/36 eyes). Of 32 eyes diagnosed with RAA, neovascular glaucoma, choroidal hemorrhage, and tractional retinal detachment as complications associated with RAA were detected in 13 (40.6%). Of the 36 eyes evaluated, 14 (39%) had a final BCVA below 20/70. RAA and these complications associated with RAA were main causes of low vision.

CONCLUSIONS

Complications associated with RAA become the most serious ocular manifestations in the patients with ATTR Gly83Arg amyloidosis. Vitrectomy is not sufficient to guarantee hATTR patients good visual function. Based on FFA results, RAA in ATTR Gly83Arg amyloidosis can be divided into three stages. Early screening and treatment for RAA is imperative before clinical stage.