Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration

• Published in: The New England journal of medicine Vol. 351; no. 4; pp. 346 - 353
• Main Authors: Stone, Edwin M, Braun, Terry A, Russell, Stephen R, Kuehn, Markus H, Lotery, Andrew J, Moore, Paula A, Eastman, Christopher G, Casavant, Thomas L, Sheffield, Val C
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 22.07.2004
• Subjects: Aged; Amino Acid Substitution; Biological and medical sciences; Calcium-Binding Proteins - genetics; Case-Control Studies; Colleges & universities; Cysteine Endopeptidases - genetics; Disease; DNA Mutational Analysis; Extracellular Matrix Proteins - genetics; Female; General aspects; Genetics; Humans; Immunoglobulins - genetics; Macular degeneration; Macular Degeneration - genetics; Male; Medical sciences; Middle Aged; Mutation, Missense; Older people; Ophthalmology; Recombinant Proteins - genetics; Retina; Retinopathies; Reverse Transcriptase Polymerase Chain Reaction; United States > US; Macular degeneration; Medicine; Eye disease; Retinopathy; Gene; Macula disciform degeneration; Fibulin; Variations; Genetics; Maculopathy; Age
• ISSN: 0028-4793; 1533-4406; 1533-4406
• DOI: 10.1056/NEJMoa040833

Age-related macular degeneration (AMD) is common, affecting approximately 7 million people in the United States. However, knowledge of its causes is scant. This study builds on studies indicating that fibulin variants may confer susceptibility to AMD. The authors screened five genes encoding members of the fibulin family, extracellular matrix proteins, and found an association between variations in fibulin 5 and AMD. This study builds on research indicating that fibulin variants may confer susceptibility to AMD. Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the developed world. 1 – 3 In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch's membrane. In the United States alone, more than 7 million people have drusen of sufficient size and number that they are at substantial risk for severe visual loss. 4 AMD is likely to be a mechanistically heterogeneous group of disorders, and the specific disease mechanisms that underlie the vast . . .