ABSTRACT
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.