Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis

Buxbaum, Joel N.; Brannagan, Thomas H.; Buades-Reinés, Juan; Cisneros-Barroso, Eugenia; Conceição, Isabel; Kyriakides, Theodoros; Merlini, Giampaolo; Obici, Laura; Planté‐Bordeneuve, Violaine; Rousseau, Antoine; Sekijima, Yoshiki; Imai, Atsushi; Cruz, Márcia Waddington; Yamada, Masahito

doi:10.1080/13506129.2018.1554563

Cited by 28 publications

(31 citation statements)

References 22 publications

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“…29 Moreover, new antiamyloid systemic therapies prolong patient life expectancy and improve symptoms of systemic disorders, but do not affect the course of ocular symptoms. 10 For these reasons, the frequency of RAA may be higher in patients with longer survival. Third, we conducted retinal photocoagulation to peripheral retinas during vitrectomy to remove vitreous opacity, and this may have prevented the formation of microaneurysms and retinal ischemia in the peripheral retina.…”

Section: Discussionmentioning

confidence: 99%

Ocular Angiographic Features in Japanese Patients With Val30met Hereditary Transthyretin Amyloidosis

Kakihara¹,

Hirano²,

Kitahara³

et al. 2022

Retina

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Purpose: To investigate ocular angiographic features of hereditary transthyretin amyloidosis with transthyretin Val30Met mutation (hATTR-V30M) in Japanese patients.Methods: We retrospectively reviewed 102 eyes of 51 patients with hATTR-V30M who underwent fluorescein angiograms and indocyanine green angiograms between 2012 and 2018. Systemic severity score, fluorescein angiograms, indocyanine green angiograms, and ocular amyloidosis presentations at the final angiograms and subsequent neovascular events were evaluated. Primary outcomes were the frequency of choroidal amyloid angiopathy and retinal amyloid angiopathy (RAA). Secondary outcomes were their correlations to the systemic severity score.Results: Six eyes could not be evaluated by fluorescein angiogram because of vitreous opacity. Of 96 eyes evaluated, RAA was detected in 36 (37.5%). Neovascularization was not detected. Indocyanine green angiogram indicated choroidal amyloid angiopathy in 46/ 51 patients (90.2%), with distinct patterns-diffuse (n = 6), focal (n = 14), and punctiform (n = 26)-based on late-phase hypercyanescence. Retinal amyloid angiopathy and choroidal amyloid angiopathy grades were associated with systemic severity (r = 0.57 and 0.50, respectively; both P , 0.05). At 35.4 ± 28.4 (0-96) months, iris-rubeosis was observed in one eye and vitreous hemorrhage in two.Conclusion: Retinal amyloid angiopathy was less common and choroidal amyloid angiopathy was frequent, and their severity correlated with the systemic severity score. The frequencies of RAA and subsequent neovascular events in this study may suggest regional differences in the ocular angiographic features of hATTR-V30M.

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Section: Discussionmentioning

confidence: 99%

Ocular Angiographic Features in Japanese Patients With Val30met Hereditary Transthyretin Amyloidosis

Kakihara¹,

Hirano²,

Kitahara³

et al. 2022

Retina

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“…[291][292][293] In addition, it should be noted that ocular amyloidosis and leptomeningeal/cerebral vessel amyloidosis are not relieved by liver transplantation due to variant TTR synthesis by the retinal pigment epithelium and choroid plexus. [294][295][296] The situation surrounding the use of liver transplantation for ATTRv amyloidosis in Japan is different from that in other areas of the world. Cadaveric liver tissue is mainly used for transplantation outside Japan, whereas liver from live donors is mainly used in Japan due to a lack of brain dead donors.…”

Section: ▋ 51 Liver Transplantationmentioning

confidence: 99%

JCS 2020 Guideline on Diagnosis and Treatment of Cardiac Amyloidosis

Kitaoka

Izumi

Izumiya

et al. 2020

Circ J

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It is difficult to say that there is more evidence for cardiac amyloidosis (CA) than for ischemic heart disease. On the other hand, 99 m technetium pyrophosphate ( 99 m Tc-PYP) scintigraphy has been reported to be useful with high sensitivity and specificity, especially in transthyretin (TTR) amyloidosis (ATTR) 1,2 Due to the spread of diagnosis using this method, CA, especially wild-type ATTR (ATTRwt) amyloidosis, which has traditionally been considered a rare disease, is more prevalent than previously assumed, and encountered relatively frequently in daily clinical practice. Furthermore, treatment for not only amyloid light-chain (AL) amyloidosis, but also ATTR, has also progressed rapidly. Tafamidis, a drug that stabilizes the TTR tetramer and suppresses amyloid fibril formation and tissue deposition, was listed and used in Japan in November 2013 for the treatment of peripheral neuropathy in patients with hereditary (variant) ATTR (ATTRv) amyloidosis. In addition, following the results of the 2018 Transthyretin Amyloidosis Cardiomyopathy Clinical Trial (ATTR-ACT), which showed the efficacy of tafamidis for CA, 3 the use of TTR to treat CA was approved in March 2019 in Japan.Needless to say, amyloidosis is a systemic disease, and in Japan, numerous studies have been conducted and medical treatments devised by the Ministry of Health, Labour and Welfare (MHLW)'s "Research Group on Amyloidosis", a research project on intractable disease policy. The present guidelines have been developed in coordination between the MHLW's "Research Group on Amyloidosis", the Japanese Circulation Society (JCS) and cardiology-related societies, the Japanese Society of Amyloidosis, and the Japanese Society of Hematology. Systemic amyloidosis specified by the MHLW as being an incurable disease is classified into the following four types.

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“…[13][14][15] The efficacy of new systemic antiamyloid therapies such as tafamidis, interfering RNAs, or antisense oligonucleotides on ocular ATTRv seems limited, if not null. 16 The prevalence of vitreous involvement in ATTRv ranges from 0% to 50%. It increases with the duration of disease and is associated with a number of TTR amyloidogenic mutations.…”

Section: Introductionmentioning

confidence: 99%

Specific postoperative complications of vitrectomy in hereditary transthyretin amyloidosis

Thiagasorupan

Barreau

Gendron

et al. 2021

European Journal of Ophthalmology

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Introduction: Vitrectomy may improve visual acuity of hereditary transthyretin amyloidosis (ATTRv) patients presenting with vitreous opacities but is associated with severe complications. The objective of this study is to report visual outcomes, early and late complications of a series of ATTRv patients who underwent vitrectomy in the French ATTRv reference center. Methods: This retrospective, single-center study, included all ATTRv patients who underwent vitrectomy between 2002 and 2017. Data were collected on pre and postoperative best corrected visual acuity (BCVA) and early and late postoperative complications. Results: A total of 21 eyes from 15 patients were included. The mean postoperative follow-up was 40 ± 20 months (6–160 months). BCVA increased from 0.7 ± 0.4 LogMAR preoperatively to 0.3 ± 0.4 LogMAR ( p = 0.003) at last postoperative visit. During follow-up, all initially glaucomatous eyes worsened, with three eyes (37%) requiring filtering surgery and two eyes (25%) had further vision loss. Among non-glaucomatous patients, four eyes (31%) developed glaucoma with two requiring trabeculectomy and one eye (8%) had further vision loss. Three eyes (three patients) presented with complications of amyloid angiopathy. Three eyes (three patients) experienced recurrence of vitreous deposits requiring surgical revision. Conclusion: Due to the potential complications, vitrectomy in ATTRv requires specific perioperative management and life-long postoperative monitoring.

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Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis

Cited by 28 publications

References 22 publications

Ocular Angiographic Features in Japanese Patients With Val30met Hereditary Transthyretin Amyloidosis

Ocular Angiographic Features in Japanese Patients With Val30met Hereditary Transthyretin Amyloidosis

JCS 2020 Guideline on Diagnosis and Treatment of Cardiac Amyloidosis

Specific postoperative complications of vitrectomy in hereditary transthyretin amyloidosis

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