Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy

Elliott H Sohn; Praveen J Patel; Robert E MacLaren; Feisal A Adatia; Bishwanath Pal; Andrew R Webster; Adnan Tufail

doi:10.1001/archophthalmol.2011.338

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Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy

Journal article

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Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy

Elliott H Sohn, Praveen J Patel, Robert E MacLaren, Feisal A Adatia, Bishwanath Pal, Andrew R Webster and Adnan Tufail

Archives of ophthalmology (1960), Vol.129(12), pp.1626-1628

12/2011

DOI: 10.1001/archophthalmol.2011.338

PMID: 22159686

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Abstract

Doyne honeycomb retinal dystrophy (DHRD), malattia leventinese, and dominant radial drusen are allelic conditions that typically present with maculopathy of early age and autofluorescent drusen in the posterior pole with late hyperpigmentation and atrophy of the retinal pigment epithelium (RPE).1 These conditions are caused by a single R345W mutation in the gene encoding epidermal growth factor–containing fibrillin-like extracellular matrix protein 1 (EFEMP1),2 also known as fibulin 3. Development of choroidal neovascularization (CNV) is an uncommon but known sight-threatening complication1 for which the only recently reported intervention for this condition—vitrectomy and subretinal membrane removal3—requires complex surgery. Because of phenotypic similarities but pathophysiologic differences to age-related macular degeneration, we sought to determine the effects of intravitreal treatment with bevacizumab in patients with DHRD.

Corneal Dystrophies, Hereditary - drug therapy

Antibodies, Monoclonal, Humanized - therapeutic use

Intravitreal Injections

Tomography, Optical Coherence

Extracellular Matrix Proteins - genetics

Humans

Middle Aged

Corneal Dystrophies, Hereditary - genetics

Male

Vascular Endothelial Growth Factor A - antagonists & inhibitors

Bevacizumab

Point Mutation

Choroidal Neovascularization - drug therapy

Optic Disk Drusen - congenital

Angiogenesis Inhibitors - therapeutic use

Adult

Female

Retrospective Studies

Choroidal Neovascularization - genetics

Visual Acuity - physiology

Fluorescein Angiography

Details

Title: Subtitle: Responsiveness of choroidal neovascular membranes in patients with R345W mutation in fibulin 3 (Doyne honeycomb retinal dystrophy) to anti-vascular endothelial growth factor therapy
Creators: Elliott H Sohn - Ophthalmology/Retina, University of Iowa, 200 Hawkins Dr PFP, Iowa City, IA 52242, USA. elliott.sohn@gmail.com
Praveen J Patel
Robert E MacLaren
Feisal A Adatia
Bishwanath Pal
Andrew R Webster
Adnan Tufail
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.129(12), pp.1626-1628
DOI: 10.1001/archophthalmol.2011.338
PMID: 22159686
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Language: English
Date published: 12/2011
Academic Unit: Ophthalmology and Visual Sciences
Record Identifier: 9983979981602771

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