T M O'Hearn1, A Fawzi, S He, N A Rao, J I Lim. 1. Retina Service, Eye and Ear Infirmary, University of Illinois, 1855W Taylor St, Suite 2.50, Chicago, IL 60612, USA.
Abstract
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.
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.
Authors: M Brett; M R Persey; M M Reilly; T Revesz; D R Booth; S E Booth; P N Hawkins; M B Pepys; J A Morgan-Hughes Journal: Brain Date: 1999-02 Impact factor: 13.501
Authors: Elia J Duh; Hoseong S Yang; Julia A Haller; Eugene De Juan; Mark S Humayun; Peter Gehlbach; Michele Melia; Dante Pieramici; J B Harlan; Peter A Campochiaro; Donald J Zack Journal: Am J Ophthalmol Date: 2004-04 Impact factor: 5.258
Authors: M M Reilly; D Adams; D R Booth; M B Davis; G Said; M Laubriat-Bianchin; M B Pepys; P K Thomas; A E Harding Journal: Brain Date: 1995-08 Impact factor: 13.501
Authors: Anne Schänzer; Christoph Kimmich; Christoph Röcken; Thomas Haverkamp; Isabell Weidner; Till Acker; Heidrun H Krämer Journal: J Med Case Rep Date: 2014-12-04
Authors: Lasse Jørgensen Cehofski; Anders Kruse; Alexander Nørgård Alsing; Jonas Ellegaard Nielsen; Shona Pedersen; Svend Kirkeby; Bent Honoré; Henrik Vorum Journal: Mol Vis Date: 2018-11-26 Impact factor: 2.367