Abstract
This is a case of a 17-year-old girl who presented with gradual onset ptosis, external ophthalmoplegia and pigmentary retinopathy. She was diagnosed with Kearns-Sayre Syndrome (KSS), a mitochondrial disorder, which is defined by the triad: onset before 20 years of age, progressive external ophthalmoplegia and pigmentary retinopathy. It was caused by a single mitochondrial DNA deletion.
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References
DiMauro S, Hirano M. Mitochondrial DNA deletion syndromes. 2003 Dec 17 [Updated 2011 May 3]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle: University of Washington, Seattle; 1993.
Pitceathly RD, Rahman S, Hanna MG. Single deletions in mitochondrial DNA -molecular mechanisms and disease phenotypes in clinical practice. NeuromusculDisord. 2012;22(7):577–86.
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Wedatilake, Y., Rahman, S. (2017). Drooping Eyelids Plus. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_30
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_30
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