basal laminar drusen
Findings
No curated finding names basal laminar drusen yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007472), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Late young adult onset
HPO, annotations 2026-09-02
Features
2 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.
- DrusenHPOHP:0011510
- Progressive visual lossHPOHP:0000529
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.
- CFHHGNC:4883
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
1 name
Resolves to: basal laminar drusen
- Also called
- drusen of Bruch membrane