Patients with Gly83Arg variant hereditary transthyretin amyloidosis (hATTR) might suffer significant visual impairment due to complications such as retinal amyloid angiopathy (RAA) and glaucoma, according to research recently published in the International Journal of Ophthalmology.
The study presented a case series of 5 Gly83Arg variant hATTR patients who were diagnosed with RAA at the Affiliated Hospital of Zunyi Medical University between January 2010 and December 2021. The researchers based the diagnosis on a detailed medical history inquiry, systemic and ophthalmic examinations, and gene sequencing.
Three female and 2 male patients, with a mean age of 52.00±7.23 years, presented with pain and decreased vision. All of them had undergone vitrectomy for vitreous amyloidosis in 1 or both eyes.
The researchers identified vitreous opacity in all 10 eyes, whereas 7 eyes developed RAA 2 to 20 years after the onset of hATTR. The clinical manifestations included hemorrhage in 2 eyes (29%), neovascular glaucoma in 2 eyes (29%), and iris neovascularization in 1 eye (14%).
Read more about hATTR complications
Microangioma lesions were discovered in all affected eyes that underwent fundus fluorescein angiography (FFA), while the incidence of the retinal nonperfusion area was 67%. There were no reports of retinal neovascularization, however, the prognosis of visual acuity was not ideal.
“Patients with hATTR are also at risk of developing glaucoma after vitrectomy; therefore, the timing of surgery should be carefully managed, and postoperative FFA should be routinely performed,” Su and colleagues emphasized. “It is necessary to perform FFA once a year in the follow-up after vitrectomy. And, FFA should also be performed in time if the hATTR patients have clinical manifestations such as vitreous hemorrhage and high intraocular pressure.”
RAA, an uncommon retinal vasculopathy often associated with hATTR, may be caused by a variety of transthyretin gene mutations including V30M, Y114C, E54G, R34K, and A36P. The Gly83Arg mutation is often identified in southwest China.
Reference
Su G, Chen XW, Pan JL, et al. Clinical features of retinal amyloid angiopathy with transthyretin Gly83Arg variant. Int J Ophthalmol. Published online January 18, 2023. doi:10.18240/ijo.2023.01.19.
