Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial benign flecked retina - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial benign flecked retina

MONDO:0009235

Also known as:fleck retina, familial benignFRFB

Overview

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.

GeneticsAutosomal recessive · PLA2G5 (chr 1)

ResearchLimited published research (1 article)

Clinical Presentation

Features include always present findings: Retinal flecks. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Retinal flecks, Visual impairment

Explore clinical features

Genetic Landscape

PLA2G5 function has not been fully characterized.

Familial benign flecked retina is associated with mutations in the PLA2G5 gene on chromosome 1.

Diagnosis

Genetic testing for PLA2G5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial benign flecked retina.

1 publication has been identified in PubMed for familial benign flecked retina. Research spans Epidemiology / Natural History (100%).

Recent Publications

Lim HY (2024). [PMID: 39434579](https://pubmed.ncbi.nlm.nih.gov/39434579/). *Korean J Ophthalmol*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 2:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:228980

Orphanet

European rare disease database

Orphanet:363989

GARD

Genetic and Rare Diseases Info Center

GARD:18651

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

familial benign flecked retina

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team