CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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14
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OrphanetNr:
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OMIM Id:
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304030
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Age of onset:
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Adult onset
[Omim]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0008275)
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Abnormal light-adapted electroretinogram |
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2 / 7739
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2
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(HPO:0000642)
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Red-green dyschromatopsia |
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25 / 7739
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3
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(HPO:0000572)
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Visual loss |
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272 / 7739
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4
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(HPO:0000548)
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Cone/cone-rod dystrophy |
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47 / 7739
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5
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(HPO:0000541)
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Retinal detachment |
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87 / 7739
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6
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(HPO:0007641)
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Dyschromatopsia |
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19 / 7739
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7
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(HPO:0001939)
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Abnormality of metabolism/homeostasis |
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328 / 7739
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8
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(OMIM)
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Late macular lesions |
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1 / 7739
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9
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(OMIM)
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Elevated cone thresholds on dark adaptometry |
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1 / 7739
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10
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(OMIM)
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Fading of retinal sheen with clearer choroidal structures on dark adaptation |
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1 / 7739
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11
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(OMIM)
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Cone dystrophy |
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2 / 7739
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12
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(OMIM)
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Gradual visual loss |
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1 / 7739
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13
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(OMIM)
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Greenish-golden tapetal-like retinal sheen |
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1 / 7739
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14
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(HPO:0003581)
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Adult onset |
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117 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |