Abstract
Purpose :
To report the clinical characteristics and surgical outcomes of vitrectomy encountered in eyes with vitreous amyloidosis. The novel term named vitreoretinal amyloidosis, systemic evaluation and visual outcome after vitrectomy are discussed. Transthyretin gene (TTR) mutations in Asian patients with familial amyloidosis are described.
Methods :
Nineteen eyes of 10 Asian patients with a diagnosis of vitreoretinal amyloidosis from January, 2008, to September, 2021. Detailed history, genetic analysis, systemic and ocular examination of 19 eyes of 10 patients were carried out. Vitreous biopsy, followed by 23- to 25-gauge vitrectomy was performed in all patients. Patients were followed up on days 1, 7, and 30 and then every 3 months. The main outcome measures were best-corrected visual acuity (BCVA), intraocular pressure, SD/SS-OCT/OCTA insights, pathology, TTR mutations, treatment and disease course on follow-up outcomes were investigated.
Results :
Mean age at presentation was 51 years, with a 1:1 male-to-female distribution. Family history was positive in 4 patients. Eighteen eyes had pseudopodia lentis, whereas all 19 eyes had glass wool-like vitreous. Waxy or cotton-wool vitreous with firm vitreous adhesions beyond major arcades and along retinal vessels was noted during surgery in all eyes. Congo red staining and polarized microscopy demonstrated vitreous amyloidosis. Most of preoperative BCVA was < 20/200, whereas the postoperative BCVA improved to 20/100 to 20/25.
We identified the OCTA features of vertical hyperreflective lesions that appeared as punctate with moderate or high reflectivity affecting all layers of the neuroretina in 18 eyes of 9 patients (18 eyes of 19 eyes [94.7%]), and the subtle needle-shaped patterns in 17 of 19 eyes (89.5%). Gene sequencing revealed the heterozygous Val30 Met TTR mutation in 2 patients of 1 pedigree, a heterozygous mutation G, p.R54G TTR (late-onset) in another 2 patients of 1 pedigree, confirming the diagnosis of familial amyloidosis. No patients subsequently were found to have systemic amyloidosis during the follow-up.
Conclusions :
We firstly described and named the novel terms of "vitreoretinal amyloidosis" mainly based on OCT/OCTA features corresponding to the tissue structures. In addition, the heterozygous mutations of TTR in four patients of familial amyloidosis with vitreoretinal amyloidosis from Chinese are reported.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.