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In Search of Mouse Models for Exfoliation Syndrome.

Am J Ophthalmol

November 2024

From the Vanderbilt Eye Institute, Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center (R.W.K., S.I., J.K.), Nashville, Tennessee.

Purpose: Exfoliation syndrome (XFS) is a systemic connective tissue disorder with elusive pathophysiology. We hypothesize that a mouse model with elastic fiber defects caused by lack of lysyl oxidase like 1 (LOXL1 encoded by Loxl1), combined with microfibril deficiency due to Fbn1 mutation (encoding fibrillin-1, Fbn1) will display ocular and systemic phenotypes of XFS.

Methods: Loxl1 was crossed with Fbn1 to create double mutant (dbm) mice.

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