eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | papilledema |
| Comorbidity | C0012236|22q11.2 deletion syndrome |
| Sentences | 1 |
| PubMedID- 20548946 | A literature search did not show a direct link between chek2 and the eye, however one study reported mapping of a locus on chromosome 22q12.1–q13.1 (opa5) to autosomal dominant optic atrophy [40] and one case-report described an association of chromosome 22q11.2 deletion syndrome with optic disc swelling, which is probably caused by the resulting hypocalcaemia [41]. |
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