Ocular Manifestations of Familial Transthyretin Amyloidosis

Reynolds, Margaret; Veverka, Karen A.; Gertz, Morie A.; Dispenzieri, Angela; Zeldenrust, Steven R.; Leung, Nelson; Pulido, José S.

doi:10.1016/j.ajo.2017.09.001

Cited by 67 publications

(79 citation statements)

References 30 publications

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“… 2 Pars plana vitrectomy for vitreous opacities results in restoration of visual acuity. 3 , 4 However, recurrence of amyloid has been reported, most commonly in the retrolental space. 5 , 6 , 7 Some report that this recurrence is most likely due to a re-opacification of remnant vitreous in an incompletely vitrectomized eye.…”

Section: Discussionmentioning

confidence: 99%

“… 1 Ocular involvement is common and can be in the form of abnormal conjunctival vessels, keratoconjunctivitis sicca, pupillary abnormalities, vitreous opacities and glaucoma. 2 , 3 We report the case of a 35-year-old man with autosomal-dominant, familial TTR-associated amyloidosis and bilateral vitreous opacities. After undergoing vitrectomy, he had a recurrence of ocular amyloid attached to the posterior capsule of the lens with complaints of glare and blurred vision.…”

Section: Introductionmentioning

confidence: 99%

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Nd:YAG capsulotomy for the management of posterior capsular amyloidosis

Mansukhani

Pulido

Khanna

2019

American Journal of Ophthalmology Case Reports

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PurposeTo describe the accumulation of amyloid in Berger's space.ObservationsA 35-year-old man with autosomal-dominant, familial transthyretin-associated amyloidosis and bilateral vitreous opacities had a recurrence of amyloidosis following vitrectomy. The recurrent amyloid was attached to the posterior capsule of the lens. Phacoemulsification followed by neodymium:yttrium-aluminum-garnet (Nd:YAG) capsulotomy was helpful in restoring vision.Conclusions and importanceAmyloid can reaccumulate in Berger's space, which is difficult to reach in phakic eyes during vitrectomy and can then cause decreased vision. Recognition of this interesting anatomic problem will allow for faster visual rehabilitation of the patient.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Nd:YAG capsulotomy for the management of posterior capsular amyloidosis

Mansukhani

Pulido

Khanna

2019

American Journal of Ophthalmology Case Reports

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“…17 The extracellular volume fraction (ECV) correlated with the amyloid burden and was an independent prognostic factor for survival in a cohort of 263 patients with TTR-CA. 18 20 The prevalence of all ocular manifestations of ATTRm amyloidosis increases with disease duration. 18 20 The prevalence of all ocular manifestations of ATTRm amyloidosis increases with disease duration.…”

Section: Cardiac Involvement In Attrm Amyloidosis (Ttr-ca)mentioning

confidence: 99%

“…16 An early marker of cardiac involvement in ATTRm amyloidosis and prognostic factor of poor outcome is atrial affection. 18 20 The prevalence of all ocular manifestations of ATTRm amyloidosis increases with disease duration. 21…”

Section: Electrocardiographic (Ecg) Abnormalities Typically Recorded Inmentioning

confidence: 99%

Hereditary transthyretin-related amyloidosis

et al. 2018

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Hereditary transthyretin(TTR)-related amyloidosis (ATTRm amyloidosis) is an endemic/non-endemic, autosomal-dominant, early-and late-onset, rare, progressive disorder, predominantly manifesting as length-dependent, small fiber dominant, axonal polyneuropathy and frequently associated with cardiac disorders and other multisystem diseases. ATTRm amyloidosis is due to variants in the TTR gene, with the substitution Val30Met as the most frequent mutation. TTR mutations lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, and formation of amyloid fibrils, which are consecutively deposited extracellularly in various tissues, such as nerves, heart, brain, eyes, intestines, kidneys, or the skin. Neuropathy may not only include large nerve fibers but also small fibers, and not only sensory and motor fibers but also autonomic fibers. Types of TTR variants, age at onset, penetrance, and clinical presentation vary between geographical areas. Suggestive of a ATTRm amyloidosis are a sensorimotor polyneuropathy, positive family history, autonomic dysfunction, cardiomyopathy, carpal tunnel syndrome, unexplained weight loss, and resistance to immunotherapy. If only sensory A-delta or C fibers are affected, small fiber neuropathy ensues. Diagnostic tests for small fiber neuropathy include determination of intraepidermal nerve fiber density, laser-evoked potentials, heat-and cold-detection thresholds, and measurement of the electrochemical skin conductance. Therapy currently relies on liver transplantation and TTR-stabilizers (tafamidis, diflunisal). K E Y W O R D Samyloid, neuropathy, small fiber, tafamidis, transplantation, transthyretin | 93 FINSTERER ET al. eyes, the gastrointestinal tract, the kidneys, and the skin. ATTRm amyloidosis is resistant to immunotherapy. Though ATTRm-related polyneuropathy or TTR-CA may occur without affection of another tissue, a variable combination of organ affection (multiorgan involvement) is the most frequent phenotype. This review aims at summarizing and discussing previous and recent findings concerning the clinical presentation, genetic background, pathogenesis, diagnosis, treatment, and outcome of ATTRm-related polyneuropathy. | ME THODSData for this review were identified by searches of MEDLINE for references of relevant articles. Search terms applied were "transthyretin," "gene," "TTR-FAP," or "mutation," combined with "neuropathy," "hereditary," "autonomic," "small fiber neuropathy," and "polyneuropathy." Results of the search were screened for potentially relevant studies by application of inclusion and exclusion criteria for the full texts of the relevant studies. Included were randomized controlled trials (RCTs), observational studies with controls, case series, and case reports. Only original articles about humans, and published between 1966 and 2018 were included. Reviews, editorials, and letters were not considered. Reference lists of retrieved studies were checked for reports of additional studies. Websites checked for additional, particularly geneti...

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“…В среднем через 10 лет после дебюта ТСАП пациенты нуждаются в диализной терапии [8]. Офтальмологическое обследование позволяет выявить сухой кератоконъюнктивит, вторичную глаукому, помутнение стекловидного тела и зрачковые аномалии [20,21]. Сухость склер -раннее проявление ТСАП [8].…”

Section: обзорыunclassified

Transthyretin familial amyloid polyneuropathy

Kopishinskaya

2018

Z. nevrol. psikhiatr. im. S.S. Korsakova

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Транстиретиновая семейная амилоидная полинейропатия (ТСАП)-прогрессирующее, приводящее к летальному исходу, заболевание. ТСАП обусловлена внеклеточным отложением нерастворимых амилоидных фибрилл в эндоневрии и проявляется сенсорными, моторными и вегетативными расстройствами и/или кардиомиопатией. Причиной ТСАП являются мутации гена белка транстиретина; известно более 100 типов таких мутаций. Ввиду фенотипического разнообразия ТСАП клиницистам часто сложно установить правильный диагноз. Ошибочная диагностика-частое явление, что увеличивает риск возникновения органной патологии. В статье изложены вопросы патогенеза, диагностики и лечения больных ТСАП.

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Ocular Manifestations of Familial Transthyretin Amyloidosis

Cited by 67 publications

References 30 publications

Nd:YAG capsulotomy for the management of posterior capsular amyloidosis

Nd:YAG capsulotomy for the management of posterior capsular amyloidosis

Hereditary transthyretin-related amyloidosis

Transthyretin familial amyloid polyneuropathy

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