Angiographic Signatures of the Predominant Form of Familial Transthyretin Amyloidosis (Val30Met Mutation)

Small gauge vitrectomy for vitreous amyloidosis and subsequent management of secondary glaucoma in patients with hereditary transthyretin amyloidosis

“…TTR-related FAP, normally referred to as hereditary amyloid TTR (ATTR) amyloidosis 2 , is an autosomal dominant disorder with clinical onset usually before the age of 50 years, and an overall survival time of less than 10 years [3][4][5] . Hereditary ATTR amyloidosis often includes ocular symptoms such as irregular pupil, dry eye, vitreous opacity, and glaucoma [6][7][8] . Liver transplantation slows disease progression and increases the survival rate among patients with hereditary ATTR amyloidosis 9,10 .…”

Anterior Chamber Flare as an Objective and Quantitative Noninvasive Method for Oculopathy in Transthyretin V30M Amyloidosis Patients

“…Some authors hypothesize that the breakdown of BAB initially is due to endothelial injury caused by the mutant TTR [ 33 , 34 ], but there must be another complementary mechanism since patients are transplanted and have no TTR mutant in circulation. The damage should be from outside the vessels were circulates the mutant TTR (aqueous humor and vitreous).…”

Assessment of patients with hereditary transthyretin amyloidosis – understanding the impact of management and disease progression

“…Ophthalmological examination, including best-corrected visual acuity, intraocular pressure, slit lamp examination (including fluorescein staining of the ocular surface) and dilated fundus examination, should be performed to assess dry eye, anterior and posterior chamber amyloid deposits, as well as amyloid retinal angiopathy [4,41]. Vitreous opacities should be monitored using fundus photography and classified according to the modified Koga classification [42]. Structural and functional assessment of the optic nerve, by the measurement of the retinal nerve fibre layer using optical coherence tomography and automated visual field, should be performed in case of elevated and/or significant increase in intraocular pressure.…”

“…Structural and functional assessment of the optic nerve, by the measurement of the retinal nerve fibre layer using optical coherence tomography and automated visual field, should be performed in case of elevated and/or significant increase in intraocular pressure. Fluorescein angiography should be performed in case of retinal haemorrhages suggestive of amyloid retinal angiopathy [42].…”