Retinal drusen

Summary

Retinal drusen (MONDO:0006949) is a disease with 53 GWAS associations across 9 studies and 4 clinical trials. A subtype of degeneration of macula and posterior pole — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 53
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	retinal drusen
Mondo ID	MONDO:0006949
EFO	EFO:1001155
MeSH	D015593
DOID	DOID:2569
SNOMED CT	247153005
UMLS	C0035312
MedGen	20549
MedDRA	10062776
Is cancer (heuristic)	no

Data availability: 53 GWAS associations (9 studies).

Disease family

This is a subtype of degeneration of macula and posterior pole. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › macular degeneration › degeneration of macula and posterior pole › retinal drusen

Related subtypes (5): hole retinal cyst, cystoid macular retinal degeneration, preretinal fibrosis, toxic maculopathy, age-related macular degeneration

Subtypes (3): Doyne honeycomb retinal dystrophy, basal laminar drusen, reticular pseudodrusen

Genetics & variants

GWAS landscape

53 GWAS associations across 9 studies. Top hits map to 23 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs79746087	7e-09	GADD45B - RNU6-993P	?
rs7028791	1e-08	SVEP1	?
rs7850939	2e-08	SVEP1	?
rs8125299	8e-08	SLC23A2	?
rs76316680	2e-07	SERF1AP1 - STMN1P2	?
rs17759824	4e-07	LINC01191 - SEPHS1P7	?
rs560151907	6e-07	MEI4 - IRAK1BP1	A	1.32
rs185370986	7e-07	GABRG1	T	1.24
rs62434093	1e-06	PLEKHG1	?
rs569861	1e-06	AVEN	?
rs56100867	2e-06	BTNL12P, BTNL12P, FSTL1	T	0.98
rs4870533	2e-06	PLEKHG1	?
rs6983974	2e-06	DPYS	?
rs150294	2e-06	MIR9-3HG	?
rs41464047	2e-06	GOLIM4 - EGFEM1P	?
rs7002482	3e-06	SDR16C6P, SDR16C6P	?
rs11172495	3e-06	LINC02403 - RPL21P103	?
rs3810040	3e-06	COLEC12	?
rs9457158	4e-06	GNG5P1 - PRR18	?
rs77117659	4e-06	SERF1AP1 - STMN1P2	?
rs58492658	4e-06	RNU6-367P - MIR138-1	?
rs9738293	5e-06	VWF - CD9	?
rs9633352	5e-06	LINC01724	?
rs2923901	5e-06	LINC01724	?
rs7520632	5e-06	LINC01724	?
rs12309358	6e-06	C12orf42	?
rs79655595	6e-06	CTNND2	?
rs41285260	7e-06	CENPW	?
rs16880636	7e-06	ITGA2	?
rs12809858	7e-06	BRI3BP - AACS	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90104237	Choe EK	2022	0	0	Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.
GCST90132233	Osterman MD	2022	0	0	Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.
GCST90132234	Osterman MD	2022	0	0	Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.
GCST90132235	Osterman MD	2022	0	0	Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.
GCST90132236	Osterman MD	2022	0	0	Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.
GCST90132238	Osterman MD	2022	0	0	Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.
GCST90132239	Osterman MD	2022	0	0	Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.
GCST90132240	Osterman MD	2022	0	0	Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.
GCST90132241	Osterman MD	2022	0	0	Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	1
Tier 3: regulatory	1
Tier 4: intronic/intergenic	42

MAF distribution

Bucket	Variants
common (>=0.05)	42
low_freq (0.01-0.05)	3
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	28
intergenic_variant	13
non_coding_transcript_exon_variant	1
missense_variant	1
regulatory_region_variant	1
splice_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs79746087	19	2489652	T>C	0.05	intron_variant	GADD45B - RNU6-993P	7e-09	Tier 4: intronic/intergenic
rs7028791	9	110478201	C>A,T	0.05	intron_variant	SVEP1	1e-08	Tier 4: intronic/intergenic
rs7850939	9	110480125	T>A,C	0.05	intron_variant	SVEP1	2e-08	Tier 4: intronic/intergenic
rs8125299	20	4880012	C>G,T	0.05	intron_variant	SLC23A2	8e-08	Tier 4: intronic/intergenic
rs76316680	4	137359484	A>T	0.05	intergenic_variant	SERF1AP1 - STMN1P2	2e-07	Tier 4: intronic/intergenic
rs17759824	2	114184701	C>A,T	0.05	intron_variant	LINC01191 - SEPHS1P7	4e-07	Tier 4: intronic/intergenic
rs560151907	6	78380751	G>A	0.01	intron_variant	MEI4 - IRAK1BP1	6e-07	Tier 4: intronic/intergenic
rs185370986	4	46105004	A>T	0.012	intron_variant	GABRG1	7e-07	Tier 4: intronic/intergenic
rs62434093	6	150621913	T>C	0.05	intron_variant	PLEKHG1	1e-06	Tier 4: intronic/intergenic
rs569861	15	33903558	C>A,G,T	0.05	intron_variant	AVEN	1e-06	Tier 4: intronic/intergenic
rs56100867	3	120413333	C>T	0.024	intron_variant	BTNL12P, BTNL12P, FSTL1	2e-06	Tier 4: intronic/intergenic
rs4870533	6	150604234	C>T	0.05	intron_variant	PLEKHG1	2e-06	Tier 4: intronic/intergenic
rs6983974	8	104428570	C>T	0.05	intron_variant	DPYS	2e-06	Tier 4: intronic/intergenic
rs150294	15	89387917	A>C,G	0.05	non_coding_transcript_exon_variant	MIR9-3HG	2e-06	Tier 4: intronic/intergenic
rs41464047	3	168179183	A>T	0.05	intergenic_variant	GOLIM4 - EGFEM1P	2e-06	Tier 4: intronic/intergenic
rs7002482	8	56382641	C>A,G,T	0.05	intron_variant	SDR16C6P, SDR16C6P	3e-06	Tier 4: intronic/intergenic
rs11172495	12	58208910	C>T	0.05	intergenic_variant	LINC02403 - RPL21P103	3e-06	Tier 4: intronic/intergenic
rs3810040	18	357247	G>A,C,T	0.05	intron_variant	COLEC12	3e-06	Tier 4: intronic/intergenic
rs9457158	6	166282771	T>A,C	0.05	intergenic_variant	GNG5P1 - PRR18	4e-06	Tier 4: intronic/intergenic
rs77117659	4	137319137	G>C,T	0.05	intergenic_variant	SERF1AP1 - STMN1P2	4e-06	Tier 4: intronic/intergenic
rs58492658	3	44098920	C>T	0.05	intron_variant	RNU6-367P - MIR138-1	4e-06	Tier 4: intronic/intergenic
rs9738293	12	6151417	A>C,G,T	0.05	intron_variant	VWF - CD9	5e-06	Tier 4: intronic/intergenic
rs9633352	1	196061118	C>T	0.05	intron_variant	LINC01724	5e-06	Tier 4: intronic/intergenic
rs2923901	1	196061226	C>A,G,T	0.05	intron_variant	LINC01724	5e-06	Tier 4: intronic/intergenic
rs7520632	1	196073490	G>A,C,T	0.05	intron_variant	LINC01724	5e-06	Tier 4: intronic/intergenic
rs12309358	12	103346686	A>C,G	0.05	intron_variant	C12orf42	6e-06	Tier 4: intronic/intergenic
rs79655595	5	11126501	T>A,C	0.05	intron_variant	CTNND2	6e-06	Tier 4: intronic/intergenic
rs41285260	6	126340356	G>C,T	0.05	missense_variant	CENPW	7e-06	Tier 1: coding
rs16880636	5	53005261	C>T	0.05	intron_variant	ITGA2	7e-06	Tier 4: intronic/intergenic
rs12809858	12	125049673	T>C	0.05	regulatory_region_variant	BRI3BP - AACS	7e-06	Tier 3: regulatory

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01666821	Not specified	COMPLETED	A Population-based Study of Macular Choroidal Neovascularization in a Chinese Population
NCT02569892	Not specified	COMPLETED	Non-Damaging Photothermal Therapy of Non-exudative Age Related Macular Degeneration
NCT02960828	Not specified	UNKNOWN	Stop Early Age-related Macular Degeneration (AMD) From Vision Loss Eternally Study
NCT03946085	Not specified	COMPLETED	Evaluation of a New Eye-specific Multivitamin Formula in Participants at Risk of Age-related Macular Degeneration (AMD)