RETINAL CONE DYSTROPHY 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
RCD4 |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
610478
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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:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000505) | Visual impairment | 17033974 | IBIS | 297 / 7739 | ||
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(HPO:0007984) | Reduced amplitude of dark-adapted bright flash electroretinogram b-wave | 17033974 | IBIS | 3 / 7739 | ||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Wycisk et al. (2006) described 2 sibs with a recessive form of retinal cone dystrophy (RCD4). Symptoms were minimal except for slowly progressive reduction in visual acuity. Fundus examination showed nearly normal appearance in both. Although rod and ... |
| Molecular genetics OMIM | Wycisk et al. (2006) identified a homozygous nonsense mutation in the CACNA2D4 gene (Y802X; 608171.0001) in 2 sibs with RCD4. |