BASAL LAMINAR DRUSEN

General Information (adopted from Orphanet):

Synonyms, Signs: DRUSEN OF BRUCH MEMBRANE
DRUSEN, CUTICULAR
DRUSEN, EARLY ADULT-ONSET, GROUPED
Number of Symptoms 5
OrphanetNr:
OMIM Id: 126700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000529) Progressive visual loss 54 / 7739
2
(OMIM) Pigmentary disturbances with secondary calcifications 1 / 7739
3
(OMIM) Round or oval grape-like lesions of posterior polar retina 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Multiple drusen of Bruch membrane 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. ('Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal.')

'Basal laminar drusen' refers to an early adult-onset drusen phenotype that ...

Molecular genetics OMIM In 30 probands with a diagnosis of basal laminar drusen maculopathy, Boon et al. (2008) found the tyr402-to-his variant of the CFH gene, encoding complement factor H (134370.0008), in 48% of alleles. They found compound heterozygosity in affected ...