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GTR Home > Conditions/Phenotypes > Familial benign flecked retina

Familial benign flecked retina

Synonyms
Fleck retina, familial benign
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Familial benign fleck retina is an autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region (summary by Sergouniotis et al., 2011). [from OMIM]

Available tests

22 tests are in the database for this condition.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FRFB, GV-PLA2, PLA2-10, hVPLA(2), PLA2G5
    Summary: phospholipase A2 group V

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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