Christmas tree cataract and myotonic dystrophy type 1
نویسندگان
چکیده
منابع مشابه
Myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a distal myopathy and a multisystem disease occurring with an incidence of 1/8000, as a result of a CTG trinucleotide repeat expansion in the serinetreonine-protein kinase (DMPK) coding gene on chromosome 19q13.3. In DM1 patients the length of the CTG expansion ranges from 50 to 4000. Disease severity correlates with repeat length and the phenomenon of genetic...
متن کاملA Christmas tree cataract
A 70-year-old man referred for cataract surgery, had on examination a palette of colored needle-shaped opacities in the cortex and anterior nucleus of the lens, consistent with unilateral Christmas tree cataract. This type of cataract result from the accelerated breakdown of membrane associated proteins. The peptides and amino-acids accumulate in the lumen of the reticular meshwork, and cystine...
متن کاملChristmas Tree Cataract - A Cataract that Glitters.
A 54-year-old man presented to the Ophthalmology OPD with redness and discharge from his eyes. His vision was 20/20 in both the eyes. There was diffuse conjunctival congestion and mild discharge in both the eyes. On detailed examination, the left eye showed highly refractive, multicoloured , iridescent crystals in the inferior cortex and nucleus of the crystalline lens. The colours changed with...
متن کاملLife habits in myotonic dystrophy type 1.
OBJECTIVE To describe and compare life habits between individuals with adult and mild phenotypes of myotonic dystrophy; identify life habit dimensions in which accomplishment is compromised; and describe satisfaction related to life habits. DESIGN Cross-sectional study. SUBJECTS A random sample of 200 subjects with myotonic dystrophy (42 mild phenotypes, 158 adult phenotypes). MEASUREMENT...
متن کامل[Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling].
PURPOSE To detect MD1 premutation and full mutation carriers among cataract patients and offer familial genetic counseling. METHODS We studied the DNA of 60 selected cataract patients through polymerase chain reaction analysis. This study was performed at the "Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto" where selected patients had been examined at the Cataract Outpatient...
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ژورنال
عنوان ژورنال: Eye
سال: 2018
ISSN: 0950-222X,1476-5454
DOI: 10.1038/s41433-018-0161-9