Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis

Bunod, Roxane; Adams, David H.; Cauquil, Cécile; Francou, Bruno; Labeyrie, Céline; Bourenane, Halima; Adam, Clovis; Algalarrondo, Vincent; Slama, Michel; Darce-Bello, Martha; Barreau, Emmanuel; Labétoulle, Marc; Rousseau, Antoine

doi:10.1136/bjophthalmol-2019-315381

Cited by 9 publications

(6 citation statements)

References 36 publications

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“…These results are in line with previous reports 3,5,8,11,12 with variations of different signs prevalent probably because of the different distribution of genetic variants in different geographic areas.…”

Section: Discussionsupporting

confidence: 93%

Ophthalmologic Involvement in Patients With Hereditary Transthyretin Amyloidosis

Ruiz‐Medrano

Puertas

Almazán-Alonso

et al. 2022

Retina

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The aim of this study was to determine the ophthalmologic involvement in patients with hereditary transthyretin amyloidosis and its correlation with the mutations described in the literature.Methods: Cross-sectional, noninterventional study. Fifty-two eyes of 26 consecutive patients diagnosed with hereditary transthyretin amyloidosis who visited the Puerta de Hierro-Majadahonda University Hospital from September 2019 to March 2022. All patients underwent complete ophthalmologic examination and multimodal imaging. Cardiologic, neurologic, digestive, and renal examinations were also recorded.Results: Eighteen eyes of the total (34.61%) showed amyloid-related ocular involvement, vitreous amyloid deposits being the most common ocular manifestation (18/52). Statistically significant differences were found for the presence of vitreous amyloid deposits (P , 0.01), crystalline amyloid deposits (P , 0.05), parenchymal amyloid deposits (P , 0.01), and vascular alterations (P , 0.01) when comparing affected and unaffected eyes. Moreover, affected eyes showed worse best-corrected visual acuity (P , 0.01).Conclusion: Ocular manifestations are present in a substantial number of patients with ATTR that could potentially lead to devastating consequences to patients' best-corrected visual acuity and quality of life. Therefore, it is important to emphasize the importance of multidisciplinary management and ophthalmologic assessment, follow-up and surgical treatment when necessary. To the best of our knowledge, this represents the largest series in Spain of amyloidosis' ophthalmologic involvement.

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Section: Discussionsupporting

confidence: 93%

Ophthalmologic Involvement in Patients With Hereditary Transthyretin Amyloidosis

Ruiz‐Medrano

Puertas

Almazán-Alonso

et al. 2022

Retina

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“… 10 Two other studies with ICG confirmed these changes in ATTRv patients. 23 , 24 Marta et al evaluated the choroidal vascularization with OCT in ATTRv patients. 9 They found higher stromal area, a lower choroidal thickness, and lower choroidal vascularity index, compared with a control group of age-matched healthy patients.…”

Section: Resultsmentioning

confidence: 99%

Monitoring the Patient with Retinal Angiopathy Associated with Hereditary Transthyretin Amyloidosis: Current Perspectives

Marques¹,

Coelho²,

Menéres³

et al. 2022

OPTH

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Retinal angiopathy associated with hereditary transthyretin amyloidosis (ATTRv), if untreated, may lead to irreversible vision loss. Our purpose was to systematically review the clinical and imaging features of retinal angiopathy associated with ATTRv and assemble a monitoring approach for these patients. All types of original research studies reporting clinical and imaging findings on retinal angiopathy associated with ATTRv were included. The most common clinical findings were tortuous retinal vessels, microaneurysms, retinal hemorrhages, sheathing of retinal vessels, whitish amyloid deposits along retinal arteries, obliteration of retinal vessels, vitreous hemorrhage, retinal and iris neovascularization. The most relevant imaging findings were hyperautofluorescence of perivessel amyloid deposits; delayed arterial filling, vascular leakage, and retinal ischemia on fluorescein angiography; late hypercyanescence along the choroidal arteries on indocyanine green angiography; perivascular hyperreflective material, needle-shaped deposits on the retinal surface and macular edema on optical coherence tomography (OCT) and attenuated retinal vascular network on OCT-angiography. ATTRv patients should be strictly followed to detect and treat retinal angiopathy, avoiding complications. Both panretinal photocoagulation and intravitreal anti-vascular endothelial growth factor have been used to treat retinal angiopathy in ATTRv. In an individual that presents with retinal angiopathy of unknown etiology, ATTRv should be considered as in the differential diagnosis, even out of the initial core countries. The prognostic value of subclinical findings, namely in OCT-A, is not yet established.

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“…10,11 Reportedly, ocular findings vary with TTR variants. 12 The main ocular symptoms of hATTR-V30M include irregular pupils, dry eyes, amyloid angiopathy, vitreous opacity, and glaucoma. 13–18…”

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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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Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis

Cited by 9 publications

References 36 publications

Ophthalmologic Involvement in Patients With Hereditary Transthyretin Amyloidosis

Ophthalmologic Involvement in Patients With Hereditary Transthyretin Amyloidosis

Monitoring the Patient with Retinal Angiopathy Associated with Hereditary Transthyretin Amyloidosis: Current Perspectives

Ocular Angiographic Features in Japanese Patients With Val30met Hereditary Transthyretin Amyloidosis

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