GROUPED PIGMENTATION OF THE RETINA
General Information (adopted from Orphanet):
| Synonyms, Signs: |
GROUPED PIGMENTATION OF RETINAL PIGMENT EPITHELIUM GROUPED PIGMENTATION OF THE MACULA |
| Number of Symptoms | 4 |
| OrphanetNr: | |
| OMIM Id: |
233800
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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:0007703) | Abnormality of retinal pigmentation | 21 / 7739 | ||||
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(HPO:0012508) | Metamorphopsia | 3 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Grouped pigmentation of retinal fovea | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Congenital grouped pigmentation of the retina is a rare disorder characterized by a grouping together of round to oval spots of pigment in one or more quadrants of the retina, except for the macula (summary by Renardel de ... |
| Clinical Description OMIM |
Grouped pigmentation of the retina limited strictly to the foveal area was described by Loewenstein and Steel (1941) and by Chan (1951). Forgacs and Bozin (1966) reported the first familial incidence, 2 affected sisters who complained ... |