X-linked cone dysfunction syndrome with myopia

MONDO:0010446

X-linked cone dysfunction syndrome with myopia is characterized 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.

Also known as: Bornholm eye disease, Bornholm eye disease, X-linked recessive, BORNHOLM eye disease, bed, myopia, high, with nonprogressive cone dysfunction

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