Secondary Glaucoma in Patients With Familial Amyloidotic Polyneuropathy

Abstract

To elucidate the clinical features and surgical outcomes of the treatment of secondary glaucoma associated with transthyretin (TTR)-related familial amyloidotic polyneuropathy (FAP).Design: Retrospective case study.Participants: Forty-nine Japanese patients with FAP.Methods: For all patients, measurement of bestcorrected visual acuity, intraocular pressure, and visual fields as well as slitlamp and ocular fundus examinations were conducted and compared. In addition, the exact mutation of the amyloidogenic TTR variants was analyzed for all 49 patients with FAP. The TTR mutations included amyloidogenic TTR (ATTR) Val30Met in 41 patients, ATTR Tyr114Cys in 6, ATTR Ser50Ile in 1, and a compound heterozygous mutation of ATTR Val30Met + Arg104His in 1. Results:The onset of secondary glaucoma was defined as elevation of intraocular pressure and glaucomatous changes in visual field defects. Secondary glaucoma was detected in 12 (24%) of the 49 patients. The incidence of secondary glaucoma in patients with the Val30Met mutation (17%) was lower than for the other FAP genotypes (P=.02 using the 2 test). Of 20 glaucomatous eyes,

Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation

“…In previous studies, trabeculectomy successfully lowered the IOP. 28 However, in the present study, four patients (IV:4, IV:6, IV:20, and IV:24 ) continued to have elevated IOP despite medical management, trabeculectomy, and/or cyclophotocoagulation. Patients with TTR Gly83Arg should be monitored regularly for the development of secondary glaucoma.…”

25-gauge Vitrectomy to Treat Ocular Complications of Familial Amyloid Polyneuropathy

“…1,2 Amyloid deposition to the trabecular meshwork could cause glaucoma, and to the vitreous cortex may result in vitreous opacity. 2,3 Because these 2 complications are often associated in FAP, we sometimes experience glaucomatous eyes with severe vitreous opacity, which had already undergone trabeculectomy. In such eyes, a detailed observation of the optic disk to evaluate glaucomatous changes cannot be performed.…”

Nonpenetrating Deep Sclerectomy as an Effective Treatment of Glaucoma Related to Familial Amyloid Polyneuropathy

“…1 Degeneration of endothelial cell and unmyelinated nerve fibers in the uveoscleral and cornoscleral meshworks and juxtacanalicular tissue as well as the possible accumulation of perivascular amyloid in conjunctival and episcleral tissue may contribute to the elevated intraocular pressure (IOP). 7,8 In our opinion, glaucoma secondary to FAP is a combination of all these factors, the trabecular mechanism being the most significant. 1,9,10 The course of glaucoma in FAP patients is usually accelerated and often requires surgical treatment, of which trabeculectomy is performed most frequently.…”

“…1 The amyloid may precipitate in the trabecular meshwork (TM), 5 seen as pigmented deposits. Secondary glaucoma is relatively common and the prevalence, which varies between 8% and 50%, 1,4,6,7 increases with the duration of the disease and time after LT. The pathogenesis of glaucoma in FAP remains unclear, but most authors suggest that the deposition of amyloid fibrils in the TM and the Schlemm canal results in obstruction of the aqueous outflow.…”

“…1,9,10 The course of glaucoma in FAP patients is usually accelerated and often requires surgical treatment, of which trabeculectomy is performed most frequently. 7,11 There is only 1 report published 7 of a nonpenetrating filtration surgery in FAP-related glaucoma. The patient had an unsatisfactory outcome and poor control of IOP, but we have no details on the surgery and other possible risk factors.…”