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Genetic Origins of Cataract
Alan Shiels, PhD;
J. Fielding Hejtmancik, MD, PhD
Arch Ophthalmol. 2007;125(2):165-173.
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INTRODUCTION
Cataract, which can be defined as any opacity of the crystalline lens, results when the refractive index of the lens varies significantly over distances approximating the wavelength of the transmitted light.1 This variation in the refractive index can result from changes in lens cell structure, changes in lens protein constituents, or both.2 Cataracts are generally associated with breakdown of the lens microarchitecture. Vacuole formation can cause large fluctuations in optical density, resulting in light scattering. Light scattering and opacity also can occur if there are significant concentrations of high-molecular-weight protein aggregates, roughly 0.1 nm or more in size. The short-range, ordered packing of the crystallins, which make up more than 90% of soluble lens proteins, is important for the maintenance of lens crystallins in a homogeneous phase.
Defined by age at onset, a congenital or infantile cataract is visible within the first . . . [Full Text of this Article]
CONGENITAL CATARACT
AGE-RELATED CATARACT
CURRENT APPROACHES AND TOOLS
OVERVIEW OF CATARACT GENETICS
Congenital Cataract Specific Genes Implicated in Congenital Cataracts Age-Related Cataract
CLINICAL IMPLICATIONS AND GENETIC COUNSELING
Evaluation Differential Diagnosis and Diagnostic Tests Treatment
AUTHOR INFORMATION
Author Affiliations: Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Mo (Dr Shiels); Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Md (Dr Hejtmancik).
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