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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ptosis
Comorbidity C0012569|diplopia
Sentences 2
PubMedID- 24399867 A progressively drooping eyelid or strabismus with diplopia, especially with onset during childhood, adolescence or early adult life, may be the clinical expression of extraocular muscle involvement related to mitochondrial myopathy or, less frequently and in adults, oculopharyngeal muscular dystrophy.
PubMedID- 21087811 Results: when the disease was diagnosed, 11 patients out of 15 had a ptosis with diplopia, two had an isolated ptosis, and two had isolated diplopia.

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