X-linked cone dysfunction syndrome with myopia

Orpha code: 90001OMIM code: 300843

Definition

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.

Disease data
Classification

Disease

Synonyms
Bornholm eye disease
Choroba oczu Bornholma
ORPHA code
90001
OMIM code
300843
ICD10 code
H53.8
ICD11 code
-

No additional description.

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