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Conjunctival lymphangiectasia in Ser77Tyr hereditary transthyretin amyloidosis

Poster Details

First Author: M.Labetoulle FRANCE

Co Author(s):    S. Hayek   D. Adams   M. M'Garrech   E. Barreau   C. Adam   A. Rousseau

Abstract Details

Purpose:

The aim of this study is to describe anterior segment OCT (AS-OCT) and histopathologic features of conjunctival lymphangiectasia in patients with hereditary transthyretin amyloidosis (H-TTR-A) due to the Ser77Tyr mutation.

Setting:

H-TTR-A are a spectrum of severe autosomal diseases with disabling polyneuropathy, heart disease and ocular complications, caused by more than a hundred TTR mutations identified worldwide. Ocular involvement in Ser77Tyr patients had not been described previously and conjunctival lymphangiectasia have not been reported in patients with H-TTR-A.

Methods:

We report a case series of patients with conjunctival lymphangiectasia seen for systematic ocular evaluation at the French Reference Center for H-TTR-A. All patients had genetically confirmed Ser77Tyr H-TTR-A. Ophthalmic evaluation included, for all patients comprehensive clinical examination with anterior and posterior segment photographs and AS spectral domain OCT. Two patients underwent conjunctival biopsy with histopathologic analysis

Results:

Four patients (2 males, 2 females, aged 66±4 years old) were included. In all patients, slit lamp biomicroscopy revealed bilateral cystic chemosis of the bulbar conjunctiva with a « string of pearls » appearance. Lymphangiectasia were asymptomatic in all patients except in one who complained of foreign body sensation. AS-OCT showed clear fluid-filled spaces demarcated by septae within the elevated conjunctiva. Histopathology of the conjunctiva showed dilated lymphatic vessels with extensive extracellular amyloid deposits, which stained positive with TTR antibodies. None of the patients had other ocular manifestations of H-TTR-A, i.e. anterior chamber or vitreous amyloid deposits or secondary glaucoma.

Conclusions:

Conjunctival lymphangiectasia may be considered as an ocular manifestation of Ser77Tyr HHT-R. It may be secondary to lymphatic vessels obstruction by amyloid deposits. AS-OCT shows a typical aspect and may be helpful to confirm the diagnosis. FINANCIAL DISCLOUSRE: NONE

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