PT  - JOURNAL ARTICLE
AU  - Roxane Bunod
AU  - David Adams
AU  - Cécile Cauquil
AU  - Bruno Francou
AU  - Céline Labeyrie
AU  - Halima Bourenane
AU  - Clovis Adam
AU  - Vincent Algalarrondo
AU  - Michel Slama
AU  - Martha Darce-Bello
AU  - Emmanuel Barreau
AU  - Marc Labetoulle
AU  - Antoine Rousseau
TI  - Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis
AID  - 10.1136/bjophthalmol-2019-315381
DP  - 2020 Oct 01
TA  - British Journal of Ophthalmology
PG  - 1363--1367
VI  - 104
IP  - 10
4099  - http://bjo.bmj.com/content/104/10/1363.short
4100  - http://bjo.bmj.com/content/104/10/1363.full
SO  - Br J Ophthalmol2020 Oct 01; 104
AB  - 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.