Corneal degeneration

Summary

Corneal degeneration (MONDO:0001515) is a disease (an umbrella term covering 5 Mondo subtypes) with 1 GWAS associations across 5 studies and 3 clinical trials. A subtype of corneal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 5 Mondo subtypes
• GWAS associations: 1
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	corneal degeneration
Mondo ID	MONDO:0001515
DOID	DOID:1237
ICD-10-CM	H18.4
ICD-11	699504167
SNOMED CT	111521006
UMLS	C0155118
MedGen	56352
Is cancer (heuristic)	no

Data availability: 1 GWAS association (5 studies).

Disease family

This is a subtype of corneal disorder. 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 › disorder of orbital region › eye disorder › corneal disorder › corneal degeneration

Related subtypes (23): cornea plana, pseudopterygium, corneal deposit, Bowman’s membrane folds or rupture, corneal staphyloma, corneal argyrosis, corneal ectasia, keratopathy, keratitis, corneal edema, brittle cornea syndrome, megalocornea, X-linked corneal dermoid, Peters anomaly, pellucid marginal degeneration, keratoconus, corneal dystrophy, sclerocornea, cornea neoplasm, Arnold stickler bourne syndrome, limbal stem cell deficiency, thygeson superficial punctate keratopathy, Terrien marginal degeneration

Subtypes (5): phthisical cornea, peripheral degeneration of cornea, nodular degeneration of cornea, arcus senilis, band keratopathy

Genetics & variants

GWAS landscape

1 GWAS associations across 5 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs375290574	2e-11	RDH8 - C3P1	C	2.44

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477660	Verma A	2024	2,900	443,522	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477659	Verma A	2024	1,445	118,029	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480061	Verma A	2024	1,445	118,029	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481910	Verma A	2024	459	58,798	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435978	Zhou W	2018	208	397,761	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	1
unknown	0

Functional consequences

Consequence	Count
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs375290574	19	10028881	C>T	0	intergenic_variant	RDH8 - C3P1	2e-11	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: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1	2
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04177082	PHASE1	COMPLETED	Safety and Effectiveness of the PXL-Platinum 330 System for CXL Using Riboflavin Solution
NCT04667572	PHASE1	COMPLETED	Safety & Effectiveness of the PXL-Platinum 330 System for CXL Using Riboflavin Solution
NCT04384094	Not specified	UNKNOWN	Defining the Operating Parameters for a Rebound-esthesiometer