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X-linked cone dysfunction syndrome with myopia

ORPHA90001
Synonym(s) Bornholm eye disease
Prevalence <1 / 1 000 000
Inheritance X-linked recessive
Age of onset Childhood
ICD-10
  • H53.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28.


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