Late onset lattice dystrophy
نویسندگان
چکیده
منابع مشابه
Familial muscular dystrophy of late onset.
Two related cases of a proximal muscular dystrophy are described with the full postmortem findings in one of them. The strong family history is recorded. The condition was clinically predominant in the proximal limb muscles and showed an autosomal dominant type of inheritance with complete penetrance.
متن کاملVitelliform macular dystrophy of late onset.
A family with vitelliform macular dystrophy is presented in which the proband became symptomatic at age 51 rather than during the more typical first or second decade. Elderly patients with vitelliform macular dystrophy may have clinical findings resembling age-related degenerative choroidopathy of the macula.
متن کاملFamilial late onset oculopharyngeal muscular dystrophy.
An English family is described several members of which have suffered from oculopharyngeal muscular dystrophy. No symptoms were noticed in any affected members of the family until aged at least 50 years. An autosomal dominant pattern of inheritance is clearly shown.
متن کاملLate onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family.
AIMS To establish a clinical and molecular diagnosis in a family with late onset lattice corneal dystrophy. METHODS Linkage analysis, single strand conformation polymorphism (SSCP) analysis, and direct sequencing of genomic DNA were performed. A review of the patients' clinical symptoms and signs was undertaken. RESULTS Linkage to chromosome 9q34 was established and a mutation in the gelsol...
متن کاملEndothelial cell microRNA expression in human late-onset Fuchs' dystrophy.
PURPOSE MicroRNAs (miRNAs) are a class of endogenous noncoding RNA and post transcriptionally modulate gene expression during development and disease. Our study investigated the differential miRNA expression in human Fuchs' endothelial corneal dystrophy (FECD) compared with normal endothelium to identify miRNA sequences that are involved in the pathogenesis of FECD. METHODS Comparative miRNA ...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2000
ISSN: 0007-1161
DOI: 10.1136/bjo.84.8.936d