Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD) : Drusen subdomains in fibulin-5 AMD

Murat Kucukevcilioglu; Chetankumar B Patel; Edwin M Stone; Stephen R Russell

doi:10.1007/s10792-015-0164-5

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Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD) : Drusen subdomains in fibulin-5 AMD

Journal article

Peer reviewed

Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD) : Drusen subdomains in fibulin-5 AMD

Murat Kucukevcilioglu, Chetankumar B Patel, Edwin M Stone and Stephen R Russell

International ophthalmology, Vol.36(4), pp.569-575

08/2016

DOI: 10.1007/s10792-015-0164-5

PMID: 26694911

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Abstract

To evaluate whether drusen of subjects with fibulin-5 mutation-associated age-related macular degeneration (AMD) have clinically demonstrable drusen domains as evidenced by differences between color and fluorescein angiographic profiles. Of seven patients we identified with AMD due to mutations in the fibulin-5 gene (Fib-5 AMD), five had color fundus photography and fluorescein angiography (FA). One had bilateral choroidal neovascularization and no drusen. For each eye, the green channel (GC) of the digital RGB (Red-Green-Blue) color image and hyperfluorescent domain (HD) intensity of the FA image were registered and drusen were manually segmented and measured. Totally 75 small (≤62 μm), 110 intermediate (63-125 μm), and 30 large (>125 μm) drusen were measured in four patients within the 6 × 6 mm central macular areas. All four subjects demonstrated central or paracentral HDs within each drusen perimeter. HDs were found in association with each druse, with a HD/GC ratio of 0.82, 0.76, and 0.72 respectively for small, intermediate, and large drusen (Student T Test: P < 0.01, P < 0.01, P < 0.01). A statistical difference was found for the HD/GC ratios between small- and intermediate-sized drusen and small- and large-sized drusen but not between intermediate-sized and large-sized drusen (P = 0.001, P < 0.001, P > 0.05, respectively). AMD patients with mutations in fibulin-5 share drusen phenotypic structure and have HD/GC ratios that are similar to individuals with cuticular or basal laminar drusen. Drusen substructure may reflect similarities in drusen stage and/or genesis and appear to vary among AMD genotypes.

Retinal Drusen - genetics

Retinal Drusen - diagnosis

Macular Degeneration - genetics

Extracellular Matrix Proteins - genetics

Humans

Retrospective Studies

Mutation, Missense

Protein Domains - genetics

Macular Degeneration - diagnosis

Fluorescein Angiography

Details

Title: Subtitle: Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD) : Drusen subdomains in fibulin-5 AMD
Creators: Murat Kucukevcilioglu - Department of Ophthalmology, Gulhane Military Medical School, GATA Goz Klinigi, 06010, Etlik, Ankara, Turkey. eyedrmuratk@gmail.com
Chetankumar B Patel - Greater Potomac Retina, Frederick, MD, 21704, USA
Edwin M Stone - Department of Ophthalmology and Visual Sciences, Stephen A. Wynn Institute for Vision Research, Carver College of Medicine, The University of Iowa, Iowa City, IA, 52242, USA
Stephen R Russell - Department of Ophthalmology and Visual Sciences, Stephen A. Wynn Institute for Vision Research, Carver College of Medicine, The University of Iowa, Iowa City, IA, 52242, USA
Resource Type: Journal article
Publication Details: International ophthalmology, Vol.36(4), pp.569-575
DOI: 10.1007/s10792-015-0164-5
PMID: 26694911
NLM abbreviation: Int Ophthalmol
ISSN: 0165-5701
eISSN: 1573-2630
Publisher: Netherlands
Language: English
Date published: 08/2016
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983979960102771

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