Degeneration of macula and posterior pole
diseaseOn this page
Also known as degeneration of macula and posterior pole of retina
Summary
Degeneration of macula and posterior pole (MONDO:0002175) is a disease (an umbrella term covering 6 Mondo subtypes) with 32 GWAS associations across 9 studies and 1 clinical trial. Top therapeutic interventions include ranibizumab. A subtype of macular degeneration — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 6 Mondo subtypes
- GWAS associations: 32
- Clinical trials: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | degeneration of macula and posterior pole |
| Mondo ID | MONDO:0002175 |
| DOID | DOID:2007 |
| ICD-10-CM | H35.3 |
| SNOMED CT | 267611002 |
| UMLS | C0339436 |
| MedGen | 573150 |
| Is cancer (heuristic) | no |
Also known as: degeneration of macula and posterior pole of retina
Data availability: 32 GWAS associations (9 studies).
Disease family
This is a subtype of macular degeneration. 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
Related subtypes (8): vitelliform macular dystrophy, macular retinal edema, autosomal recessive bestrophinopathy, occult macular dystrophy, macular degeneration, early-onset, Stargardt disease, patterned macular dystrophy, isolated macular dystrophy
Subtypes (6): hole retinal cyst, cystoid macular retinal degeneration, preretinal fibrosis, toxic maculopathy, age-related macular degeneration, retinal drusen
Genetics & variants
GWAS landscape
32 GWAS associations across 9 studies. Top hits map to 13 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs61871744 | 1e-323 | HTRA1-AS1 | T | 0.32 |
| rs1329424 | 1e-323 | CFH | T | 0.34 |
| rs11200630 | 2e-272 | HTRA1-AS1 | T | 0.27 |
| rs429608 | 1e-91 | SKIC2 | G | 0.2 |
| rs2230199 | 3e-57 | C3 | G | 0.12 |
| rs3816117 | 3e-24 | CETP | T | 0.06 |
| rs11118580 | 8e-21 | CD46, MIR29B2CHG | T | 0.08 |
| rs6657476 | 1e-20 | CD46, MIR29B2CHG | G | 0.08 |
| rs1667392 | 9e-20 | HERC2 | G | 0.1 |
| rs3138141 | 5e-19 | RDH5 | C | 0.07 |
| rs141853578 | 1e-18 | CFI | C | 0.78 |
| rs34882957 | 3e-18 | C9 | G | 0.27 |
| rs36212731 | 2e-17 | HTRA1-AS1, ARMS2 | ? | |
| rs579745 | 4e-17 | CFH | A | 0.23 |
| rs1532624 | 1e-16 | CETP | C | 0.06 |
| chr22:39647168 | 5e-16 | T | 0.06 | |
| chr3:154006000 | 3e-15 | T | 0.05 | |
| chr16:86733730 | 4e-14 | C | 0.06 | |
| rs7758685 | 2e-13 | LINC02537 - LINC01512 | A | 0.05 |
| rs12438302 | 3e-13 | HERC2 | G | 0.1 |
| rs2284665 | 6e-13 | HTRA1 | G | 0.2 |
| chr14:68878582 | 1e-12 | A | 0.05 | |
| rs130649 | 1e-12 | PDGFB - RPL3 | A | 0.05 |
| chr22:38478666 | 2e-12 | C | 0.22 | |
| chr15:75086545 | 7e-12 | C | 0.04 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475849 | Verma A | 2024 | 58,583 | 368,304 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477625 | Verma A | 2024 | 7,126 | 109,352 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480049 | Verma A | 2024 | 7,126 | 109,352 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90475848 | Verma A | 2024 | 4,642 | 52,515 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651192 | Liu TY | 2025 | 3,752 | 219,284 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90079900 | Backman JD | 2021 | 3,347 | 384,583 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083886 | Backman JD | 2021 | 3,347 | 384,583 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90435965 | Zhou W | 2018 | 2,191 | 396,859 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90477624 | Verma A | 2024 | 585 | 5,948 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 3 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 21 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 22 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 3 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 15 |
| unknown | 6 |
| missense_variant | 3 |
| 3_prime_UTR_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs61871744 | 10 | 122444271 | T>A,C | 0.204 | intron_variant | HTRA1-AS1 | 1e-323 | Tier 4: intronic/intergenic |
| rs1329424 | 1 | 196677046 | T>A,C,G | 0.381 | intron_variant | CFH | 1e-323 | Tier 4: intronic/intergenic |
| rs11200630 | 10 | 122450168 | T>C,G | 0.209 | intron_variant | HTRA1-AS1 | 2e-272 | Tier 4: intronic/intergenic |
| rs429608 | 6 | 31962685 | G>A | 0.149 | intron_variant | SKIC2 | 1e-91 | Tier 4: intronic/intergenic |
| rs2230199 | 19 | 6718376 | G>A,C,T | 0.209 | missense_variant | C3 | 3e-57 | Tier 1: coding |
| rs3816117 | 16 | 56962246 | T>A,C,G | 0.483 | intron_variant | CETP | 3e-24 | Tier 4: intronic/intergenic |
| rs11118580 | 1 | 207785725 | T>A,C | 0.172 | intron_variant | CD46, MIR29B2CHG | 8e-21 | Tier 4: intronic/intergenic |
| rs6657476 | 1 | 207786759 | G>T | 0.21 | intron_variant | CD46, MIR29B2CHG | 1e-20 | Tier 4: intronic/intergenic |
| rs1667392 | 15 | 28288419 | G>A,C,T | 0.406 | intron_variant | HERC2 | 9e-20 | Tier 4: intronic/intergenic |
| rs3138141 | 12 | 55721994 | C>A,G,T | 0.215 | 3_prime_UTR_variant | RDH5 | 5e-19 | Tier 2: splice/UTR |
| rs141853578 | 4 | 109764664 | C>T | 0.001 | missense_variant | CFI | 1e-18 | Tier 1: coding |
| rs34882957 | 5 | 39331792 | G>A | 0.009 | missense_variant | C9 | 3e-18 | Tier 1: coding |
| rs36212731 | 10 | 122455460 | G>A,T | 0.05 | intron_variant | HTRA1-AS1, ARMS2 | 2e-17 | Tier 4: intronic/intergenic |
| rs579745 | 1 | 196695446 | A>C,T | 0.239 | intron_variant | CFH | 4e-17 | Tier 4: intronic/intergenic |
| rs1532624 | 16 | 56971567 | C>A,G,T | 0.372 | intron_variant | CETP | 1e-16 | Tier 4: intronic/intergenic |
| chr22:39647168 | 0.255 | 5e-16 | Tier 4: intronic/intergenic | |||||
| chr3:154006000 | 0.346 | 3e-15 | Tier 4: intronic/intergenic | |||||
| chr16:86733730 | 0.272 | 4e-14 | Tier 4: intronic/intergenic | |||||
| rs7758685 | 6 | 43857529 | A>G,T | 0.5 | intron_variant | LINC02537 - LINC01512 | 2e-13 | Tier 4: intronic/intergenic |
| rs12438302 | 15 | 28293470 | G>A,C | 0.081 | intron_variant | HERC2 | 3e-13 | Tier 4: intronic/intergenic |
| rs2284665 | 10 | 122467114 | G>A,C,T | 0.244 | intron_variant | HTRA1 | 6e-13 | Tier 4: intronic/intergenic |
| chr14:68878582 | 0.267 | 1e-12 | Tier 4: intronic/intergenic | |||||
| rs130649 | 22 | 39249311 | A>C,G | 0.239 | intron_variant | PDGFB - RPL3 | 1e-12 | Tier 4: intronic/intergenic |
| chr22:38478666 | 0.009 | 2e-12 | Tier 4: intronic/intergenic | |||||
| chr15:75086545 | 0.35 | 7e-12 | Tier 4: intronic/intergenic |
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: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE4 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01669447 | PHASE4 | UNKNOWN | Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| RANIBIZUMAB | 4 | 1 |
Related Atlas pages
- Drugs: Ranibizumab