Cystoid macular edema

Summary

Cystoid macular edema (MONDO:0007935) is a disease with 1 cohort gene and 36 clinical trials. Top therapeutic interventions include triamcinolone acetonide, bromfenac, and ketorolac.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 36

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		97	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	cystoid macular edema
Mondo ID	MONDO:0007935
OMIM	153880
Orphanet	75381
DOID	DOID:4447
NCIT	C34794
SNOMED CT	312921000
UMLS	C0024440
MedGen	7435
GARD	0016694
Is cancer (heuristic)	no

Also known as: autosomal dominant cystoid macular edema · autosomal dominant cystoid macular oedema · DCMD · familial macular edema · familial macular oedema · macular dystrophy, dominant cystoid

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › macular degeneration › macular retinal edema › cystoid macular edema

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
523415	NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)	EYS	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
EYS	Orphanet:791	Retinitis pigmentosa

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
EYS	HGNC:21555	ENSG00000188107	Q5T1H1	Protein eyes shut homolog	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
EYS	Protein eyes shut homolog	Required to maintain the integrity of photoreceptor cells.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
EYS	Other/Unknown	no		EGF-type_Asp/Asn_hydroxyl_site, EGF, Laminin_G

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
islet of Langerhans	1
male germ line stem cell (sensu Vertebrata) in testis	1
primordial germ cell in gonad	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
EYS	153	tissue_specific	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, islet of Langerhans

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
EYS	1,877

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
EYS	Q5T1H1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
skeletal muscle tissue regeneration	1	887.0×	0.002	EYS
detection of light stimulus involved in visual perception	1	648.1×	0.002	EYS

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
EYS	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	EYS

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
EYS	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 36.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	10
PHASE4	7
PHASE2	7
PHASE1/PHASE2	4
PHASE1	4
PHASE3	3
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00494494	PHASE4	COMPLETED	Effect of Nepafenac on Post-operative Macular Swelling Following Uncomplicated Cataract Surgery
NCT01978015	PHASE4	COMPLETED	Blood-aqueous Barrier Changes After the Use of Timolol and Prostaglandin Analogues Fixed Combination in Pseudophakic Patients With POAG
NCT02084576	PHASE4	COMPLETED	Anti-inflammatory Efficacy for Prophylaxis of Cystoid Macular Edema (CME) After Phacoemulsification
NCT02392364	PHASE4	COMPLETED	Variable Interval Versus Set Interval Aflibercept for DME
NCT02598869	PHASE4	WITHDRAWN	Posterior Subtenon Versus Intravitreal Injection of Triamcinolone Acetonide for Treatment of Uveitic Cystoid Macular Edema
NCT03383328	PHASE4	COMPLETED	Study for Optimizing Anti-inflammatory Prophylaxis
NCT05832996	PHASE4	COMPLETED	Cool vs Room-temperature Artificial Tears
NCT00406172	PHASE3	WITHDRAWN	Intravitreal Bevacizumab (Avastin) for Pseudophakic Macular Edema (PME)
NCT01774474	PHASE3	COMPLETED	PRevention of Macular EDema After Cataract Surgery
NCT05158699	PHASE3	TERMINATED	Effectiveness of Periocular Drug Injection in CATaract Surgery
NCT05337332	PHASE2/PHASE3	UNKNOWN	Results of Suprachoroidal Steroids Injections in Two Chorioretinal Diseases
NCT04225611	PHASE1/PHASE2	RECRUITING	Therapeutic Contact Lens Drug Delivery System (TCL-DDS) in Patients With Recurrent Cystoid Macular Edema
NCT00114062	PHASE2	TERMINATED	Study to Treat Uveitis Associated Macular Edema
NCT00346983	PHASE1/PHASE2	TERMINATED	Macugen to Prevent Worsening of Macular Edema Following Cataract Surgery in Diabetics
NCT00358423	PHASE1/PHASE2	TERMINATED	The Effect of Macugen in Patients With Chronic, Post-Operative Cystoid Macular Edema
NCT00438243	PHASE2	WITHDRAWN	Pilot Study of the Effect of Topical Bromfenac Ophthalmic Solution 0.09%in Patients With Acute Post-operative Cystoid Macular Edema.
NCT00508040	PHASE2	COMPLETED	Evaluation of Birdshot Retine Choroidopathy Treatment by Either Steroid or Interferon alpha2a
NCT01471054	PHASE2	TERMINATED	Dexamethasone Intravitreal Implant for Treatment of Macular Edema After Plaque Radiotherapy of Uveal Melanoma
NCT02486484	PHASE2	UNKNOWN	Ziv-aflibercept in Ocular Disease Requiring Anti-VEGF Injection
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT05474950	PHASE1/PHASE2	UNKNOWN	Minocycline Treatment for Cystoid Macular Edema
NCT00021645	PHASE1	COMPLETED	Vitamin E to Treat Uveitis-Associated Macular Edema
NCT00371111	PHASE1	UNKNOWN	To Compare Therapeutic Effect of Intravitreal Bevacizumab and Triamcinolone in Resistant Uveitic Cystoid Macular Edema
NCT00893854	PHASE1	UNKNOWN	The Comparison Between the Therapeutic Affect of Intravitreal Diclophenac and Triamcinolone in Persistent Uveitic Cystoids Macular Edema
NCT02294656	PHASE1	COMPLETED	Acute Pseudophakic Cystoid Macular Edema Treatment Trial: Intravitreal Ranibizumab Versus Triamcinolone Acetonide
NCT07002372	Not specified	RECRUITING	Effect of Video Viewing on Intravitreal Injection Experience
NCT00464581	Not specified	COMPLETED	Lucentis for Treatment of Macular Edema
NCT00790803	Not specified	COMPLETED	Pegaptanib Therapy in Non-Infectious Uveitic Cystoid Macular Edema
NCT03025945	Not specified	COMPLETED	Prospective Study With Adjunctive Once Daily Topical Nepafenac 0.3% Versus Placebo
NCT03465124	Not specified	UNKNOWN	Evaluation of Central Macular Thickness in Femtosecond Laser-assisted Cataract Surgery
NCT04234438	Not specified	COMPLETED	Management of Cystoid Macular Edema Secondary to Retinitis Pigmentosa Via Subliminal Micropulse Yellow Laser
NCT04527523	Not specified	TERMINATED	Descemet Membrane Endothelial Keratoplasty vs. Descemet’s Stripping With Endothelial Keratoplasty vs. Descemet Stripping Only
NCT04856670	Not specified	UNKNOWN	Assessing Diabetes Mellitus on Cytokine Analysis and Macular Edema Following FLACS
NCT05069675	Not specified	UNKNOWN	Cystoid Macular Edema After Vitrectomy for Rhegmatogenous Retinal Detachment
NCT05615805	Not specified	COMPLETED	The Effect of Ocular Rinse Volume on Surface Irritation After Intravitreal Injections

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TRIAMCINOLONE ACETONIDE	4	4
BROMFENAC	4	3
KETOROLAC	4	3
NEPAFENAC	4	3
PEGAPTANIB SODIUM	4	2
BIMATOPROST	4	1
CENEGERMIN	4	1
HYPROMELLOSE	4	1
LATANOPROST	4	1
TRAVOPROST	4	1
TRIAMCINOLONE	4	1
DENUFOSOL TETRASODIUM	3	1
DEXTRAN	3	1
DEXTRAN 1	2	1
CHEMBL1164123	0	1
CHEMBL4303730	0	1
S-ROLIPRAM	0	1