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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease dystrophy, myotonic
Symptom C0086543|cataract
Sentences 2
PubMedID- 20346890 Ocular manifestations of myotonic dystrophy include cataract, ocular muscle changes, hypotony, and retinal pigmentary changes in the periphery or in the macula (known as pigment pattern dystrophy).
PubMedID- 21042563 Notably however, the triplet nucleotide (ctg)n repeat expansions underlying adult-onset cataract associated with myotonic dystrophy do not represent a significant risk factor for age-related cataract in the general population .

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