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familial benign fleck retina
Summary
- Synonym
-
- FRFB
- Definition
- A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13.
- Super Class
- autosomal recessive disease retinal disease
External Links
- Disease Ontology
- DOID:0111677
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000505 | Visual impairment |
| HP:0012045 | Retinal flecks |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000662 | Nyctalopia |
