familial benign flecked retina
Findings
No curated finding names familial benign flecked retina yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.
Definition from the Mondo Disease Ontology (MONDO:0009235), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Retinal flecksHPOHP:0012045
- 7 of 7 reported patients
- NyctalopiaHPOHP:0000662
- 0 of 7 reported patients
- Visual impairmentHPOHP:0000505
- 0 of 7 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLA2G5HGNC:9038
- Definitive · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: familial benign flecked retina
- Also called
- fleck retina, familial benign