Retina. 2022 Oct 10. doi: 10.1097/IAE.0000000000003641. Online ahead of print.
ABSTRACT
PURPOSE: The aim of this study was to determine the ophthalmological involvement in patients with hereditary transthyretin (TTR) amyloidosis and its correlation with the mutations described in the literature.
METHODS: Cross-sectional, non-interventional study. 52 eyes of 26 consecutive patients diagnosed of hereditary TTR amyloidosis that visited Puerta de Hierro-Majadahonda University Hospital from September 2019 to March 2022. All patients underwent complete ophthalmologic examination and multimodal imaging. Cardiological, neurological, digestive and renal examinations were also recorded.
RESULTS: 18 eyes out of the total (34.61%) showed amyloid-related ocular involvement, being vitreous amyloid deposits (AD) the most common ocular manifestation (18/52). Statistically significant differences were found for the presence of vitreous AD (p<0.01), crystalline AD (p<0.05), parenchymal AD (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’ BCVA and quality of life. Therefore, it is important to emphasize the importance of multidisciplinary management and ophthalmological 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.
PMID:36228151 | DOI:10.1097/IAE.0000000000003641
