Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF

• Published in: British journal of ophthalmology Vol. 91; no. 12; pp. 1607 - 1609
• Main Authors: O’Hearn, T M, Fawzi, A, He, S, Rao, N A, Lim, J I
• Format: Journal Article
• Language: English
• Published: BMA House, Tavistock Square, London, WC1H 9JR BMJ Publishing Group Ltd 01.12.2007; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Adult; Age of Onset; amyloid; Amyloid Neuropathies, Familial - diagnosis; Amyloid Neuropathies, Familial - epidemiology; Amyloid Neuropathies, Familial - genetics; Amyloid Neuropathies, Familial - metabolism; Amyloid Neuropathies, Familial - surgery; Amyloidosis; Asian Continental Ancestry Group - genetics; Biological and medical sciences; Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction; Diabetic retinopathy; Eye Diseases, Hereditary - diagnosis; Eye Diseases, Hereditary - epidemiology; Eye Diseases, Hereditary - genetics; Eye Diseases, Hereditary - metabolism; Eye Diseases, Hereditary - surgery; Fluorescein Angiography; Fundus Oculi; Glutamic Acid; Glycine; Humans; Male; Medical laboratories; Medical sciences; Metabolic diseases; Miscellaneous; Mutation; Nervous system (semeiology, syndromes); Neurology; Ophthalmology; Other metabolic disorders; Patients; Prealbumin - genetics; retina; Scientific Report; Transplants & implants; Vascular endothelial growth factor; Vascular Endothelial Growth Factor A - metabolism; VEGF; Vitrectomy; Vitreous Body - metabolism; Nervous system diseases; Metabolic diseases; Vitreous body; Polyneuropathy; Enzymopathy; Protein; Association; Vascular endothelium growth factor; Early; Amyloidosis; Peripheral nerve disease; Mutation; Ophthalmology
• ISSN: 0007-1161; 1468-2079
• DOI: 10.1136/bjo.2007.119495

Aim:To report the early vitreous involvement in a rare familial amyloidotic polyneuropathy (FAP) mutation and associated vitreous vascular endothelial growth factor (VEGF) levels.Design:Observational case series.Methods:Review of clinical, pathological, photographic,and angiographic records of two FAP siblings with severe vitreous involvement. Laboratory ELISA analysis of vitreous samples for VEGF, and DNA sequence analysis of peripheral blood for transthyretin (TTR) mutational analysis.Results:Two patients underwent 25-gauge vitrectomy in three eyes with marked improvement of visual acuity. Neovascularisation seen intraoperatively responded to endolaser. Analysis of vitrectomy samples for VEGF showed raised levels in all three specimens. Mutational analysis revealed an isolated Glu54Gly mutation in the transthyretin gene.Conclusions:Early involvement of the vitreous occurs in a rare transthyretin mutation of FAP, with increased vitreous levels of VEGF.