Abstract
Familial amyloid polyneuropathy (FAP) is a hereditary disease which eventually causes serious ocular problems.
Seven eyes from patients with FAP 1 were vitrectomised, and the insoluble proteins from the vitreous were purified, the amyloid protein isolated, and the pre-albumin characterised with a monoclonal antibody against amyloid fibril protein.
Before surgery, visual acuity was very poor, due to abundant deposits in the vitreous, frequently attached to the posterior lens capsule. The pupil had peculiar indentations and the pupillary reflexes were abnormal. Intraocular pressure (IOP) was at the upper limit of normal. In the ocular fundus an intraretinal perifoveal gray ring was sometimes seen. Vitrectomy improved visual acuity, but the reappearance of vitreous deposits reduced it to 8.8/10 after 33.4 months, when treatment was needed for most of the eyes to control IOP. Amyloid and the mutant form of pre-albumin characteristic of FAP 1, TTR Met 30, were shown to be present in the vitreous.
Similar content being viewed by others
Article PDF
References
Andrade C : A peculiar form of peripheral neuropathy: familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952, 95: 408–27.
Falls HF, Jackson JH, Carey JG, Rukavina JG, Block WD : Ocular manifestations of hereditary primary systemic amyloidosis. Arch Ophthalmol 1955, 54: 660–4.
Wallace MR, Dwulet FE, Conneally PM, Benson MD : Biochemical and molecular genetic characterisation of a new variant prealbumin associated with hereditary amyloidosis. J Clin Invest 1986, 78: 6–12::
Araki S, Mawatari S, Ohta M, Nakajima A, Kuroiwa Y : Polyneurotic amyloidosis in a Japanese family. Arch Neurol 1968, 18: 593–602.
Andersson R and Kassman T : Vitreous opacities in primary familial amyloidosis. Acta Ophthalmol: (Copenh) 1968, 46: 441–7.
Dervan P, Kelly P, Staunton H : Amyloid neuropathy—a cluster of five cases. Can J Neurol Sci 1983, 10: 140(A).
Salvi F, Ferlini A, Plasmati R, Romeo G, Bergamini L, Rovette P, Verri AP, Marbini A, Costa PP, Saraiva MJM, Ambrosetto G, Tassinari CA : Studio delle famiglie italiane con ricorrenza di polineuropatia amiloidotica familiare (FAP). Bol Hosp (Porto) 1988, 3: 43–6.
Benson MD and Wallace MR : Amyloidosis. In Scriver CR, Beaudet A, Sly W, Valle D, eds. The metabolic basis of inherited diseases, New York: McGraw-Hill 1988; 2439–2460.
Coutinho P, Martins da Silva A, Lopes Lima J, Resende Barbosa A : Forty years of experience with type 1 amyloid neuropathy. Review of 483 cases. In Glenner GG, Costa PP, Freitas AF, eds. Amyloid and amyloidosis, Amsterdam: Excerpta Medica 1980; 88–98.
Coutinho P e Ribeiro I : A forma tardia da polineuropatia amiloidótica familiar. Bol Hosp (Porto) 1988, 3: 57–62.
Doft BH, Machemer R, Skinner R, Buettner H, Clarkson J, Crock J, McLeod D, Michels R, Scott J, Wilson D : Pars plana vitrectomy for vitreous amyloidosis. Ophthalmology 1987, 94: 607–11.
Sandgren O, Stenkula S, Dedorsson I : Vitreous surgery in patients with primary neuropathic amyloidosis. Acta Ophthalmol: (Copenh) 1985, 63: 383–8.
Sandgren O, Westermark P, Stenkula S : Relation of vitreous amyloidosis to prealbumin. Ophthalmic Res 1986, 18: 98–103.
Holmgren G, Andersson R, Sandgren O, Steen L : An epidemiological study of familial amyloidotic polyneuropathy (FAP-met30) in northern Sweden. Bol Hosp (Porto) 1988, 3: 47–52.
Ferry AP and Lieberman TW : Bilateral amyloidosis of the vitreous body. Arch Ophthalmol 1976, 94: 982–91.
Schwartz MF, Green WR, Michels RG, Kincaid MC, Fogle J : An unusual case of ocular involvement in primary systemic non-familial amyloidosis. Ophthalmology 1982, 89: 394–401.
Machemer R and Norton EWD : A new concept for vitreous surgery. 3. Indications and results. Am J Ophthalmol 1972, 74: 1034–56.
Costa PP, Figueira AS, Bravo FR : Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy. Proc Natl Acad Sci USA 1978, 75: 4499–503.
Saraiva MJM, Melhus H, Rego K, Costa PP, Peterson PA, Goodman DS : Genetic studies on a human plasma transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy. In: Peeters H, ed. Protides of the biological fluids, Oxford: Pergamon Press 1985; vol 33, 127–30.
Costa PMP, Saraiva MJM, Costa PP : Anticorpos monoclonais anti-TTR(Met30) . Bol Hosp (Porto) 1988, 3: 127–31.
Saraiva MJM, Goodman DS, Costa PP, Canfield RE, Birken S : Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Clin Res 1983, 31: S33.
Trepsat C et Boeda S : Un nouveau cas d'amylose vitréenne avec confirmation ultrastructurale. Bull Mem Soc Fr Ophthalmol 1986, 97: 119–23.
Irvine AR and Char DH : Recurrent amyloid involvement in the vitreous body after vitrectomy. Am J Ophthalmol 1976, 82: 705–8.
Giora T, Gad K, Mordechai P : Treatment oi vitreous opacities in a case of familial amyloidotic polyneuropathy by vitreous surgery. Metabol Pediatr Ophthalmol 1981, 5: 105–8.
Martone RL, Herbert J, Dwork A, Schon EA : Transthyretin is synthesised in the mammalian eye. Biochem Biophys Res Commun 1988, 151: 905–12.
Herbert J, Martone RL, Cavallaro T, Dwork AJ, Schon EA : Intraocular synthesis of transthyretin. Arq Med (Porto) 1989, 3: 193, A28.
Lesseil S, Wolf PA, Benson MD, Cohen AS : Scalloped pupils in familial amyloidosis. N Engl J Med 1975, 293: 914–15.
Martins F, Gomes M, Leite V e Freitas C : A sensibilidade corneana na polineuropatia amiloidótica familiar tipo português. Rev Soc Port Oftal 1990, 16: (in press).
Martins F, Gomes A e SepúAlveda E : Alterações oculares clínicas da polineuropatia amiloidótica familiar tipo português (PAF tipo 1). Rev Soc Port Oftal 1990. 16: (in press).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Monteiro, J., Martins, A., Figueira, A. et al. Ocular changes in familial amyloidotic polyneuropathy with dense vitreous opacities. Eye 5, 99–105 (1991). https://doi.org/10.1038/eye.1991.19
Issue Date:
DOI: https://doi.org/10.1038/eye.1991.19
Keywords
This article is cited by
-
Systemic and vitreous biomarkers — new insights in diabetic retinopathy
Graefe's Archive for Clinical and Experimental Ophthalmology (2022)
-
Aqueous outflow system in familial amyloidotic polyneuropathy, Portuguese type
Graefe's Archive for Clinical and Experimental Ophthalmology (1993)