2026-04-29T20:21:17Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/164002024-09-21T10:42:48Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
Ruiz-Medrano, Jorge
author
Puertas, Mariluz
author
Almazán-Alonso, Elena
author
Fernández-Jiménez, Marina
author
Flores-Moreno, Ignacio
author
Antón, Clara Salas
author
García-Pavía, Pablo
author
Ruiz-Moreno, José M
2023-09-04T14:05:13Z
2023-09-04T14:05:13Z
2023-01-01
Retina. 2023 Jan 1;43(1):49-56.
10.1097/IAE.0000000000003641
1539-2864
Retina (Philadelphia, Pa.)
36228151
http://hdl.handle.net/20.500.12105/16400
PURPOSE
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.
eng
OPHTHALMOLOGIC INVOLVEMENT IN PATIENTS WITH HEREDITARY TRANSTHYRETIN AMYLOIDOSIS.
journal article
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URL
https://repisalud.isciii.es/bitstreams/40253f0a-aedd-48c4-87f3-7fdb3f35b8cc/download
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OPHTHALMOLOGIC INVOLVEMENT Retina_2023.pdf
URL
https://repisalud.isciii.es/bitstreams/2530cd03-f302-4f07-b9ed-025a957c9ebf/download
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text/plain
OPHTHALMOLOGIC INVOLVEMENT Retina_2023.pdf.txt