Amyloid deposition in ocular tissues of patients with familial amyloidotic polyneuropathy (FAP)

Abstract

It is known that the severity of ocular symptoms does not always correlate with the systemic symptoms in patients with familial amyloidotic polyneuropathy (FAP ATTR V30M). The ocular tissues may have their own TTR metabolic system. The aim of this study is to clarify the distribution of amyloid deposition in the ocular tissues and to investigate the relationship between ocular symptoms and histopathological changes. We analyzed histopathologically 9 autopsied eyes taken from 3 Japanese and 6 Swedish patients with FAP ATTR V30M. Localization of amyloid deposition varied among the different cases, but there were some tendencies in the distribution. The degree of amyloid deposition in the ocular tissues was not always correlated with the duration of the disease. The frequency of amyloid deposition in the conjunctiva, iris, trabecular meshwork and vitreous body were 88.9%, 44.4%, 11.1% and 11.1% respectively in the 9 patients. These frequencies in the histopathological changes correlated with the frequencies in the clinical ocular manifestations as previously reported.

Bilateral optic neuropathy and intraretinal deposits after pars plana vitrectomy in amyloidosis

“…In fact, in most pathologic specimens, amyloid deposits are localized in the vessels of the arterial circle of Zinn-Haller,[ 1 2 3 4 5 6 ] the optic nerve sheaths and along the choriocapillaris. [ 1 ] The neuroretinal rim loss and optic disc cupping, found in the right eye and afterwards in the left eye of our patient, indicate severe anterior and/or posterior vascular damage to the optic nerve.…”

“…The abnormal TTR protein is produced by the liver, choroid plexus and retinal pigment epithelium (RPE). Pathological investigation showed amyloid deposits on the conjunctiva, cornea, sclera, uveal tract, trabecular meshwork, vitreous body,[ 1 2 ] orbital tissues, and the optic nerve. [ 3 ] Vitreous deposits and secondary glaucoma are the two major ocular complications of TTR-related familial amyloid polyneuropathy.…”

Interdisziplinäre Leitlinien zur Diagnostik und Therapie der extrazerebralen Amyloidosen

“…Es sollte sowohl die Kongorotfärbung als auch die Immunhistochemie durchgeführt werden [79,80]. Die Diagnose wird unterstützt durch den systemischen Nachweis der klonalen Plasmazellerkrankung mittels positiver Immunfixation im Serum oder im 24-Stunden-Sammelurin.…”

Vitreous Amyloidosis as the Presenting Symptom of Familial Amyloid Polyneuropathy TTR Val30Met in a Portuguese Patient

“…Ocular manifestations of FAP include abnormal conjunctival vessels, keratoconjunctivitis sicca, irregularities on lens surface and border of the pupil, change of pupillary shape and light reflex, vitreous opacities and glaucoma [16, 17]. Vitreous deposits of amyloid may be seen as one manifestation among other signs of the disease, but it has also been described as the earliest, isolated symptom of the disease [18, 19, 20].…”