title: [Muscular Dystrophies Involving the Retinal Function].
abstract: Muscular dystrophies are rare disorders, with an incidence of approx. 20 in 100 000. Some dystrophies also affect retinal or optic nerve function. In such cases, the ophthalmological findings may be critical for differential diagnosis or patient counseling. For example in Duchenne muscular dystrophy, where the alteration in retinal function seems to reflect cerebral involvement. Other important forms are mitochondrial and metabolic disorders, such as the Kearns-Sayre syndrome and the Refsum syndrome. Molecular genetic analysis has become a major tool for differential diagnosis, but may be complex and demanding. This article gives an overview of major muscular dystrophies involving retinal function and their genetic origin, in order to guide differential diagnosis.
authors.affiliation: Klinik und Poliklinik für Augenheilkunde, Universitätsklinikum Regensburg.
authors.forename: H
authors.initials: H
authors.lastname: Jägle
mesh_terms: D003937:Diagnosis, Differential; D005136:Eye Proteins / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis* / Q000235:genetics*; D015594:Optic Disk Drusen / Q000175:diagnosis* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D058499:Retinal Dystrophies / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D005136:Eye Proteins; D005819:Genetic Markers