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In addition to the myotonia and muscular dystrophy myotonic.
Christmas tree cataract myotonic dystrophy. Myotonic dystrophy and cataract. Typically the cataract first appears in the outer layers at the back of the lens as very fine dust like particles that can have a brightly coloured appearance picture 1. At this early stage it is often called a christmas tree cataract because of its resemblance to the coloured lights on a christmas tree.
Christmas tree cataract is typically idiopathic or associated with myotonic dystrophy. Because the cataract did not cause a significant decrease in vision it was not removed but monitored for progression. Send us your ophthalmic image and its explanation in 150 250 words.
Request pdf on jul 9 2018 dionysios pagoulatos and others published christmas tree cataract and myotonic dystrophy type 1 find read and cite all the research you need on researchgate. Jun 12 2017 christmas tree cataract myotonic dystrophy. Myotonic dystrophy is a unique form of muscular dystrophy which is associated with a variety of ocular manifestations.
Perhaps the most noteworthy of these is the distinctive myotonic cataract which often appears early on in the course of the disorder. In this report a seemingly healthy young man w. May 22 2012 christmas tree cataract seen in myotonic dystrophy.
Almost all myotonic dystrophy patients have cataracts. Early cataracts are called christmas tree cataracts because of the bright branching appearance of fine dust like deposits in the posterior lens. Deposits eventually cloud the entire lens and form mature cataracts that may be indistinguishable from other etiologies.
Anticipation in patients with iridescent multicoloured posterior capsular lens opacities christmas tree cataract. The role in the diagnosis of myotonic dystrophy. A triple repeat of mdpk gene.
The pathognomonic feature is the failure of muscle relaxation after contraction myotonic grip. To check ask the patient to shake hands. Cataracts christmas tree cataracts or pscc orbicularis oculi weakness.
Myotonic dystrophy is a multi system disease which can initially present with symptoms of ptosis ophthalmoplegia extraocular myotonia and decreased visual acuity. Myotonic dystrophy is a tri nucleotide repeat autosomal dominant disease characterized by an inability to relax myotonia and muscle wasting muscular dystrophy.
