Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology

Inas F. Aboobakar; William M. Johnson; W. Daniel Stamer; Michael A. Hauser; R. Rand Allingham

doi:10.1016/j.exer.2016.11.011

Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology

Inas F. Aboobakar, William M. Johnson, W. Daniel Stamer, Michael A. Hauser, R. Rand Allingham

Research output: Contribution to journal › Review article › peer-review

89 Scopus citations

Abstract

Exfoliation syndrome (XFS) is a common age-related disorder that leads to deposition of extracellular fibrillar material throughout the body. The most recognized disease manifestation is exfoliation glaucoma (XFG), which is a common cause of blindness worldwide. Recent developments in XFS genetics, cell biology and epidemiology have greatly improved our understanding of the etiology of this complex inherited disease. This review summarizes current knowledge of XFS pathogenesis, identifies gaps in knowledge, and discusses areas for future research.

Original language	English (US)
Pages (from-to)	88-103
Number of pages	16
Journal	Experimental eye research
Volume	154
DOIs	https://doi.org/10.1016/j.exer.2016.11.011
State	Published - Jan 1 2017
Externally published	Yes

Keywords

CACNA1A
Exfoliation syndrome
GWAS
Gene-environment interaction
Glaucoma
Homocysteine
LOXL1
Pseudoexfoliation
TGF-β1

ASJC Scopus subject areas

Ophthalmology
Sensory Systems
Cellular and Molecular Neuroscience

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10.1016/j.exer.2016.11.011

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title = "Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology",

abstract = "Exfoliation syndrome (XFS) is a common age-related disorder that leads to deposition of extracellular fibrillar material throughout the body. The most recognized disease manifestation is exfoliation glaucoma (XFG), which is a common cause of blindness worldwide. Recent developments in XFS genetics, cell biology and epidemiology have greatly improved our understanding of the etiology of this complex inherited disease. This review summarizes current knowledge of XFS pathogenesis, identifies gaps in knowledge, and discusses areas for future research.",

keywords = "CACNA1A, Exfoliation syndrome, GWAS, Gene-environment interaction, Glaucoma, Homocysteine, LOXL1, Pseudoexfoliation, TGF-β1",

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doi = "10.1016/j.exer.2016.11.011",

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AU - Aboobakar, Inas F.

AU - Johnson, William M.

AU - Stamer, W. Daniel

AU - Hauser, Michael A.

AU - Allingham, R. Rand

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AB - Exfoliation syndrome (XFS) is a common age-related disorder that leads to deposition of extracellular fibrillar material throughout the body. The most recognized disease manifestation is exfoliation glaucoma (XFG), which is a common cause of blindness worldwide. Recent developments in XFS genetics, cell biology and epidemiology have greatly improved our understanding of the etiology of this complex inherited disease. This review summarizes current knowledge of XFS pathogenesis, identifies gaps in knowledge, and discusses areas for future research.

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KW - Gene-environment interaction

KW - Glaucoma

KW - Homocysteine

KW - LOXL1

KW - Pseudoexfoliation

KW - TGF-β1

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Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology

Abstract

Keywords

ASJC Scopus subject areas

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