Aims To investigate the relationship between the ophthalmic and systemic phenotypes in patients with hereditary transthyretin amyloidosis with the S77Y mutation (ATTRS77Y).
Methods In this cross-sectional study, patients with genetically confirmed ATTRS77Y amyloidosis were enrolled. All patients underwent complete neurological examination, including staging with the Neuropathy Impairment Score (NIS), Polyneuropathy Disability (PND) score; complete cardiological evaluation, including echocardiography, cardiac MRI and/or cardiac scintigraphy and complete ophthalmic evaluation, including slit lamp examination and fundus examination. Ocular ancillary tests (fluorescein and indocyanine green angiography, and anterior segment optical coherence tomography) were performed in cases with abnormal findings. The Kruskal-Wallis test was used for quantitative outcomes and Fisher’s exact test for qualitative outcomes. Statistical significance was indicated by p<0.05 (two tailed).
Results The study sample was composed of 24 ATTRS77Y patients. The mean patient age was 58.4±12.4 years. None of the patients presented with amyloid deposits in the anterior chamber, secondary glaucoma or vitreous amyloidosis. Retinal angiopathy was observed in four patients, complicated with retinal ischaemia in one patient. Conjunctival lymphangiectasia (CL) was detected in 13 patients (54%), associated with perilymphatic amyloid deposits. The presence of CL was statistically associated with more severe neurological disease (NIS=43.3±31.9 vs 18.9±20.4; PND=2.6±1.0 vs 1.4±0.7 in patients with and without CL, respectively; both p<0.05) and amyloid cardiomyopathy (p=0.002).
Conclusion In ATTRS77Y patients, CL is common and could serve as a potential biomarker for severe systemic disease. There were neither anterior chamber deposits, secondary glaucoma nor vitreous deposits in ATTRS77Y patients.
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Contributors All authors have given final approval of this version to be published. RB, CC and AR participated in literature search, drafting the manuscript, study design, data collection and screening, data-analysis and evidence synthesis, and revising the manuscript. CL, CA, EB, HB, MS, VA, MD-B, BF and DA participated in, data collection, data-analysis and evidence synthesis. ML, MS, BF and DA participated in data analysis and evidence synthesis and revising the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests ML has been an occasional consultant on subjects outside the scope of this work for Alcon, Allergan, Baush and Lomb, Dompe, Horus, MSD, Novartis, Santen, Shire and Thea. CC reports personal fees from Pfizer, outside the submitted work. CL and VA report personal fees from Pfizer, outside the submitted work. MS reports personal and consulting fees from Pfizer and Alnylam, outside the submitted work. DA reports personal fees from Pfizer Europe, personal fees from Pfizer, personal fees from Alnylam, and personal fees from GSK, outside the submitted work. AR has been an occasional consultant on subjects outside the scope of this work for Alcon, Novartis, Allergan, Pfizer, Shire, Horus and Thea.
Patient consent for publication Not required.
Ethics approval Institutional Review Board (IRB)/Ethics Committee approval was obtained for this study by the Ethics Committee of the French Society of Ophthalmology (IRB 00008855 Société Française d’Ophtalmologie IRB#1). This study adhered to the tenets of the Declaration of Helsinki.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement All data relevant to the study are included in the article or uploaded as online supplementary information.