FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, RECESSIVE FORM
General Information (adopted from Orphanet):
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Synonyms, Signs:
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PFD, LAVIA TYPE
PFD, FINNISH TYPE
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Number of Symptoms
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12
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OrphanetNr:
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OMIM Id:
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264420
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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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Autosomal recessive inheritance
[Omim]
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Age of onset:
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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:0000573)
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Retinal hemorrhage |
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13 / 7739
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2
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(HPO:0007769)
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Peripheral retinal degeneration |
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2 / 7739
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3
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(HPO:0000529)
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Progressive visual loss |
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54 / 7739
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4
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(HPO:0007822)
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Central retinal exudate |
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1 / 7739
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5
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(HPO:0000545)
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Myopia |
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286 / 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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(OMIM)
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Pseudoinflammatory fundus dystrophy |
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1 / 7739
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8
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(OMIM)
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Secondary dyschromatopsia |
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1 / 7739
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9
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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10
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(OMIM)
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Relatively rapid loss of visual acuity |
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1 / 7739
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11
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(OMIM)
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Striking peripheral retinal degeneration |
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1 / 7739
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12
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(OMIM)
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Disturbed dark adaptation |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |