| Metadata | |
|---|---|
| ID | DOID:0060746 |
| Name | basal laminar drusen |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/18252232, https://www.ncbi.nlm.nih.gov/pubmed/5448127 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
cuticular drusen [EXACT] drusen of bruch membrane [EXACT] early adult-onset grouped drusen [EXACT] |
| Parent Relationships |
is_a retinal drusen is_a monogenic disease |