JORGE RUIZ-MEDRANO, MD, PHD, MARILUZ PUERTAS, MD, ELENA ALMAZÁN-ALONSO, MD,
MARINA FERNÁNDEZ-JIMÉNEZ, MD, IGNACIO FLORES-MORENO, MD, PHD,
CLARA SALAS ANTÓN, MD, PHD, PABLO GARCÍA-PAVÍA, MD, PHD, JOSÉ M. RUIZ-MORENO, MD,
PHD
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.
RETINA 43:49–56, 2023
