Jaegle, H. (2016) Muscular Dystrophies Involving the Retinal Function. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 233 (3). pp. 251-256. ISSN 0023-2165, 1439-3999
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Muscular dystrophies are rare disorders, with an incidence of approx. 20 in 100000. 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; COATS-DISEASE; ABETALIPOPROTEINEMIA; MUTATION; DIAGNOSIS; GENE; MANIFESTATIONS; THERAPY; muscular dystrophy; mitochondrial disorders; retinal dystrophy |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde |
| Depositing User: | Petra Gürster |
| Date Deposited: | 03 Sep 2020 09:23 |
| Last Modified: | 03 Sep 2020 09:23 |
| URI: | https://pred.uni-regensburg.de/id/eprint/2300 |
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