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

basal laminar drusen - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

basal laminar drusen

MONDO:0007472

Also known as:cuticular drusendrusen of Bruch membraneearly adult-onset grouped drusen

Overview

A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.

GeneticsAutosomal dominant · CFH (chr 1)

Clinical Presentation

Features include: Progressive visual loss and Drusen.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CFH encodes complement factor H (1,231 aa). Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Highest expression in Artery Coronary (362.4 TPM) and Liver (332.3 TPM).

Basal laminar drusen is associated with mutations in the CFH gene on chromosome 1.

CFH is classified as a druggable target (Druggable Genome category) with score 26.1.

Diagnosis

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

Biomarker and diagnostic research for basal laminar drusen has been reported in the published literature.

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 basal laminar drusen.

27 publications have been identified in PubMed for basal laminar drusen. Research spans Epidemiology / Natural History (33%), Case Report / Case Series (19%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Disease patterns and progression	9	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:126700

GARD

Genetic and Rare Diseases Info Center

GARD:15060

Questions for Your Care Team

→Should I pursue genetic testing for CFH, and what would the results mean for my family?
→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

basal laminar drusen

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications