Abstract
Purpose
To highlight the diagnostic relevance of mitochondrial DNA (mtDNA) mutation analysis in acquired juvenile unilateral upper eyelid ptosis.
Methods
A 13-year-old boy presented with acquired, slowly progressive unilateral ptosis. We performed ophthalmological and neurological examinations, laboratory testing, skeletal muscle biopsy including histological and histochemical investigations, biochemical analysis of respiratory chain enzymes in skeletal muscle homogenate and molecular genetic testing of skeletal muscle DNA.
Results
Though clinical, laboratory, histological and biochemical analyses did not reveal any hints suggesting a mitochondrial cytopathy, molecular genetic testing by Southern blot analysis of total DNA from skeletal muscle tissue showed a 5.8 kb mtDNA deletion thus proving the diagnosis of mitochondrial chronic progressive external ophthalmoplegia (CPEO).
Conclusions
In patients with unexplained acquired juvenile unilateral ptosis, an underlying mitochondrial cytopathy should be considered even in cases of inconspicuous ancillary examinations comprising skeletal muscle histology and biochemistry. To establish the diagnosis, molecular genetic testing of DNA derived from skeletal muscle tissue is essential in those patients.
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References
Biousse V, Newman NJ (2003) Neuro-ophthalmology of mitochondrial diseases. Curr Opin Neurol 16:35–43
Chinnery PF, Turnbull DM (1997) Clinical features, investigation, and management of patients with defects of mitochondrial DNA. J Neurol Neurosurg Psychiatry 63:559–563
DiMauro S, Schon EA (2001) Mitochondrial DNA mutations in human disease. Am J Med Genet 106:18–26
DiMauro S, Andreu AL, Musumeci O, Bonilla E (2001) Diseases of oxidative phosphorylation due to mtDNA mutations. Semin Neurol 21:251–260
Goetz CG, Pappert EJ (1999) Textbook of clinical neurology, 1st edn. Saunders, Philadelphia
von Graefe A (1867) Symptomenlehre der Augenmuskellähmungen. Peters, Berlin
Hirano M, DiMauro S (2001) ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. Neurology 57:2163–2165
Schroder R, Vielhaber S, Wiedemann FR, Kornblum C, Papassotiropoulos A, Broich P, Zierz S, Elger CE, Reichmann H, Seibel P, Klockgether T, Kunz WS (2000) New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle. J Neuropathol Exp Neurol 59:353–360
Simon DK, Johns DR (1999) Mitochondrial disorders: clinical and genetic features. Annu Rev Med 50:111–127
Wallace DC (1999) Mitochondrial diseases in man and mouse. Science 283:1482–1488
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Okulla, T., Kunz, W.S., Klockgether, T. et al. Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis. Graefe's Arch Clin Exp Ophthalmol 243, 380–382 (2005). https://doi.org/10.1007/s00417-004-1000-1
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DOI: https://doi.org/10.1007/s00417-004-1000-1