Pigmented paravenous retinochoroidal atrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PPCRA PPRCA |
| Number of Symptoms | 5 |
| OrphanetNr: | 251295 |
| OMIM Id: |
172870
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| ICD-10: |
H35.5 |
| 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 dominant Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Retinal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0000655) | Vitreoretinal degeneration | 8 / 7739 | ||||
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(HPO:0000565) | Esotropia | 58 / 7739 | ||||
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(HPO:0007903) | Paravenous chorioretinal atrophy | 1 / 7739 | ||||
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(HPO:0000540) | Hypermetropia | 99 / 7739 | ||||
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(HPO:0007737) | Bone spicule pigmentation of the retina | 26 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Pigmented paravenous chorioretinal atrophy is a stationary disease of the ocular fundus in which bone corpuscle pigmentation is seen in a paravenous distribution. Patients are usually asymptomatic; diagnosis is based on the characteristic fundus appearance. Most reported cases ... |
| Molecular genetics OMIM | In all 6 affected members of a family segregating PPCRA, McKay et al. (2005) identified heterozygosity for a val162-to-met (V162M; 604210.0010) mutation within the fourth EGF-like domain of the CRB1 gene. |