Late-onset retinal degeneration
diseaseOn this page
Also known as autosomal dominant late-onset retinal degenerationLORDpigmentary retinopathy
Summary
Late-onset retinal degeneration (MONDO:0011579) is a disease caused by C1QTNF5 (GenCC Definitive), with 3 cohort genes and 5 clinical trials.
At a glance
- Prevalence: Unknown (Worldwide)
- Causal gene: C1QTNF5 (GenCC Definitive)
- Cohort genes: 3
- ClinVar variants: 95
- Phenotypes (HPO): 22
- Clinical trials: 5
Clinical features
Signs & symptoms
Clinical features (HPO)
22 HPO clinical features (Orphanet curated; top 22 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0030534 | Abnormal best corrected visual acuity test | Very frequent (80-99%) |
| HP:0000533 | Chorioretinal atrophy | Frequent (30-79%) |
| HP:0000572 | Visual loss | Frequent (30-79%) |
| HP:0000608 | Macular degeneration | Frequent (30-79%) |
| HP:0000662 | Nyctalopia | Frequent (30-79%) |
| HP:0001141 | Severely reduced visual acuity | Frequent (30-79%) |
| HP:0007791 | Patchy atrophy of the retinal pigment epithelium | Frequent (30-79%) |
| HP:0011506 | Choroidal neovascularization | Frequent (30-79%) |
| HP:0011510 | Drusen | Frequent (30-79%) |
| HP:0031530 | Multifocal subretinal deposits | Frequent (30-79%) |
| HP:0000552 | Tritanomaly | Occasional (5-29%) |
| HP:0000613 | Photophobia | Occasional (5-29%) |
| HP:0000642 | Red-green dyschromatopsia | Occasional (5-29%) |
| HP:0001089 | Iris atrophy | Occasional (5-29%) |
| HP:0001099 | Fundus atrophy | Occasional (5-29%) |
| HP:0004328 | Abnormal anterior eye segment morphology | Occasional (5-29%) |
| HP:0007401 | Macular atrophy | Occasional (5-29%) |
| HP:0012628 | Abnormal suspensory ligament of lens morphology | Occasional (5-29%) |
| HP:0012805 | Iris transillumination defect | Occasional (5-29%) |
| HP:0500087 | Peripapillary atrophy | Occasional (5-29%) |
| HP:0007906 | Ocular hypertension | Very rare (<1-4%) |
| HP:0100014 | Epiretinal membrane | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | late-onset retinal degeneration |
| Mondo ID | MONDO:0011579 |
| MeSH | C565309 |
| OMIM | 605670 |
| Orphanet | 67042 |
| DOID | DOID:0060869 |
| SNOMED CT | 719431007 |
| UMLS | C1854065 |
| MedGen | 344198 |
| GARD | 0004357 |
| Is cancer (heuristic) | no |
Also known as: autosomal dominant late-onset retinal degeneration · late-onset retinal degeneration · LORD · pigmentary retinopathy
Data availability: 95 ClinVar variants · 3 GenCC gene-disease records · 1 cell line.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › late-onset retinal degeneration
Related subtypes (104): retinal dystrophies primarily involving Bruch’s membrane, vitreoretinal dystrophy, dystrophies primarily involving the retinal pigment epithelium, retinal dystrophy in systemic or cerebroretinal lipidoses, age-related macular degeneration, helicoid peripapillary chorioretinal degeneration, Sorsby fundus dystrophy, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, pigmented paravenous retinochoroidal atrophy, retinoschisis, autosomal dominant, retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, amaurosis-hypertrichosis syndrome, familial benign flecked retina, microcephaly and chorioretinopathy 1, ornithine aminotransferase deficiency, retinal degeneration-nanophthalmos-glaucoma syndrome, retinoschisis of fovea, Revesz syndrome, choroideremia, choroideremia-deafness-obesity syndrome, X-linked retinal dysplasia, X-linked retinoschisis, progressive bifocal chorioretinal atrophy, aceruloplasminemia, infantile cerebellar-retinal degeneration, progressive retinal dystrophy due to retinol transport defect, microcornea-myopic chorioretinal atrophy, retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies, macular degeneration, early-onset, cone-rod dystrophy, ectopia lentis-chorioretinal dystrophy-myopia syndrome, foveal hypoplasia-presenile cataract syndrome, MRCS syndrome, X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome, Leber congenital amaurosis, oligocone trichromacy, Oguchi disease, retinitis pigmentosa, hereditary macular dystrophy, RPE65-related recessive retinopathy, RPGR-related retinopathy, AIPL1-related retinopathy, RP2-related retinopathy, RDH5-related retinopathy, RLBP1-related retinopathy, LCA5-related retinopathy, ATF6-related retinopathy, RAB28-related retinopathy, FLVCR1-related retinopathy with or without ataxia, RPE65-related dominant retinopathy, GUCY2D retinopathy, PDE6A-related retinopathy, ELOVL4-related maculopathy, MAK-related retinopathy, KIZ-related retinopathy, TOPORS-related retinopathy, PRPF8-related retinopathy, RD3-related retinopathy, BEST1-related dominant retinopathy, BEST1-related recessive retinopathy, IMPG2-related recessive retinopathy, IMPG2-related dominant retinopathy, CACNA1F-related retinopathy, CACNA2D4-related retinopathy, CDHR1-related retinopathy, GUCA1A-related retinopathy, RHO-related retinopathy, SNRNP200-related dominant retinopathy, RDH12-related recessive retinopathy, RDH12-related dominant retinopathy, NMNAT1-related retinopathy, CNGA3-related retinopathy, EYS-related retinopathy, GNAT2-related retinopathy, IDH3B-related retinopathy, MERTK-related retinopathy, PRPF31-related retinopathy, GPR179-related retinopathy, GRM6-related retinopathy, ADAM9-related retinopathy, RP1-related recessive retinopathy, RP1-related dominant retinopathy, CERKL-related retinopathy, TRPM1-related retinopathy, CNGB1-related retinopathy, PCARE-related retinopathy, CNGA1-related retinopathy, ABCA4-related retinopathy, NYX-related retinopathy, retinal dystrophy, X-linked, Gardner-Hardcastle type, PDE6C-related retinopathy, PDE6G-related retinopathy, LRIT3-related retinopathy, IMPG1-related dominant retinopathy, IMPG1-related recessive retinopathy, TTLL5-related retinopathy, HGSNAT-related retinopathy, IMPDH1-related retinopathy, PRPH2-related retinopathy, PROM1-related retinopathy, KCNV2-related retinopathy, CRX-related retinopathy, REEP6-related retinopathy, SPATA7-related retinopathy
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
95 retrieved; paginated sample, class counts are floors:
59 uncertain significance, 25 conflicting classifications of pathogenicity, 5 benign/likely benign, 2 pathogenic/likely pathogenic, 2 likely benign, 1 pathogenic, 1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1687105 | NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr) | C1QTNF5 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2126 | NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) | MFRP | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 812376 | NM_000929.3(PLA2G5):c.280dup (p.Val94fs) | PLA2G5 | Pathogenic | no assertion criteria provided |
| 813996 | NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala) | MFRP | Likely pathogenic | criteria provided, single submitter |
| 167294 | NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 194544 | NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 196562 | NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302925 | NM_001278431.2(C1QTNF5):c.567C>T (p.Ala189=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302941 | NM_031433.4(MFRP):c.*483T>C | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302950 | NM_031433.4(MFRP):c.1516-4G>A | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302951 | NM_031433.4(MFRP):c.1506C>T (p.Ser502=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302953 | NM_031433.4(MFRP):c.1461C>A (p.Ile487=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302956 | NM_031433.4(MFRP):c.976-14A>C | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302961 | NM_031433.4(MFRP):c.909G>C (p.Gly303=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302962 | NM_031433.4(MFRP):c.897G>A (p.Ser299=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302963 | NM_031433.4(MFRP):c.861C>T (p.Asp287=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302964 | NM_031433.4(MFRP):c.807G>A (p.Gln269=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302966 | NM_031433.4(MFRP):c.773-8A>C | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302967 | NM_031433.4(MFRP):c.705C>T (p.Phe235=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302974 | NM_031433.4(MFRP):c.303C>T (p.Ser101=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302975 | NM_031433.4(MFRP):c.271+10C>T | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302977 | NM_031433.4(MFRP):c.192C>G (p.Arg64=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302984 | NM_031433.4(MFRP):c.-49G>A | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 852164 | NM_001278431.2(C1QTNF5):c.393C>A (p.Asn131Lys) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 877118 | NM_031433.4(MFRP):c.321C>T (p.Ala107=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 877887 | NM_031433.4(MFRP):c.898+5G>A | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 878728 | NM_001278431.2(C1QTNF5):c.354G>A (p.Pro118=) | C1QTNF5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302928 | NM_001278431.2(C1QTNF5):c.341G>A (p.Arg114Gln) | MFRP | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 302930 | NM_001278431.2(C1QTNF5):c.214+9G>A | MFRP | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 288043 | NM_031433.4(MFRP):c.796C>T (p.Arg266Cys) | C1QTNF5 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 3 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| C1QTNF5 | Definitive | Autosomal dominant | late-onset retinal degeneration | 3 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| C1QTNF5 | Orphanet:67042 | Late-onset retinal degeneration |
| MFRP | Orphanet:251279 | Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome |
| MFRP | Orphanet:35612 | Nanophthalmos |
| PLA2G5 | Orphanet:363989 | Familial benign flecked retina |
Cohort genes → proteins
3 cohort genes, 3 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 3 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| C1QTNF5 | HGNC:14344 | ENSG00000223953 | Q9BXJ0 | Complement C1q tumor necrosis factor-related protein 5 | gencc,clinvar |
| MFRP | HGNC:18121 | ENSG00000235718 | Q9BY79 | Membrane frizzled-related protein | clinvar |
| PLA2G5 | HGNC:9038 | ENSG00000127472 | P39877 | Phospholipase A2 group V | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| MFRP | Membrane frizzled-related protein | May play a role in eye development. |
| PLA2G5 | Phospholipase A2 group V | Secretory calcium-dependent phospholipase A2 that primarily targets extracellular phospholipids. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 3 · 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 | 3 | 1.8× | 0.174 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| C1QTNF5 | Other/Unknown | no | C1q_dom, Collagen, Tumour_necrosis_fac-like_dom | |
| MFRP | Other/Unknown | no | CUB_dom, LDrepeatLR_classA_rpt, Frizzled_dom | |
| PLA2G5 | Other/Unknown | no | PLA2, PLA2-like_dom, PLA2_Asp_AS |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes 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) | 3 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| apex of heart | 2 |
| ascending aorta | 1 |
| gall bladder | 1 |
| primordial germ cell in gonad | 1 |
| stromal cell of endometrium | 1 |
| sural nerve | 1 |
| cardiac atrium | 1 |
| right atrium auricular region | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| C1QTNF5 | 128 | ubiquitous | yes | apex of heart, gall bladder, ascending aorta |
| MFRP | 29 | tissue_specific | marker | primordial germ cell in gonad, stromal cell of endometrium, sural nerve |
| PLA2G5 | 188 | broad | marker | right atrium auricular region, apex of heart, cardiac atrium |
Protein interactions among cohort
Intra-cohort edges: 1.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MFRP | 858 |
| PLA2G5 | 522 |
| C1QTNF5 | 369 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| C1QTNF5 | MFRP | intact, string_interaction |
Structural data
PDB: 2 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| C1QTNF5 | Q9BXJ0 | 2 |
| PLA2G5 | P39877 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| MFRP | Q9BY79 | 73.09 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 6. Enrichment computed across 3 evidence-associated genes (1 with Reactome annotation).
Pathways 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.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Acyl chain remodelling of PI | 1 | 671.8× | 0.003 | PLA2G5 |
| Acyl chain remodelling of PG | 1 | 634.4× | 0.003 | PLA2G5 |
| Acyl chain remodelling of PS | 1 | 519.1× | 0.003 | PLA2G5 |
| Acyl chain remodelling of PC | 1 | 423.0× | 0.003 | PLA2G5 |
| Acyl chain remodelling of PE | 1 | 393.8× | 0.003 | PLA2G5 |
| Synthesis of PA | 1 | 292.8× | 0.003 | PLA2G5 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| positive regulation of phagosome maturation | 1 | 5617.3× | 0.004 | PLA2G5 |
| positive regulation of immune complex clearance by monocytes and macrophages | 1 | 2808.7× | 0.004 | PLA2G5 |
| positive regulation of antifungal innate immune response | 1 | 1872.4× | 0.004 | PLA2G5 |
| positive regulation of phospholipase activity | 1 | 1123.5× | 0.005 | PLA2G5 |
| positive regulation of opsonization | 1 | 561.7× | 0.006 | PLA2G5 |
| phosphatidylglycerol metabolic process | 1 | 468.1× | 0.006 | PLA2G5 |
| leukotriene biosynthetic process | 1 | 432.1× | 0.006 | PLA2G5 |
| phosphatidylcholine catabolic process | 1 | 432.1× | 0.006 | PLA2G5 |
| phagosome-lysosome fusion | 1 | 432.1× | 0.006 | PLA2G5 |
| low-density lipoprotein particle remodeling | 1 | 351.1× | 0.007 | PLA2G5 |
| positive regulation of macrophage derived foam cell differentiation | 1 | 280.9× | 0.007 | PLA2G5 |
| eye photoreceptor cell development | 1 | 280.9× | 0.007 | MFRP |
| phosphatidylcholine metabolic process | 1 | 267.5× | 0.007 | PLA2G5 |
| embryo development ending in birth or egg hatching | 1 | 244.2× | 0.007 | MFRP |
| arachidonate secretion | 1 | 234.1× | 0.007 | PLA2G5 |
| inner ear development | 1 | 124.8× | 0.012 | C1QTNF5 |
| phospholipid metabolic process | 1 | 114.6× | 0.012 | PLA2G5 |
| negative regulation of T cell proliferation | 1 | 110.1× | 0.012 | PLA2G5 |
| positive regulation of phagocytosis | 1 | 106.0× | 0.012 | PLA2G5 |
| protein secretion | 1 | 87.8× | 0.013 | C1QTNF5 |
| retina development in camera-type eye | 1 | 85.1× | 0.013 | MFRP |
| fatty acid metabolic process | 1 | 64.6× | 0.017 | PLA2G5 |
| positive regulation of ERK1 and ERK2 cascade | 1 | 28.4× | 0.036 | PLA2G5 |
| visual perception | 1 | 26.5× | 0.037 | MFRP |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 2
Druggability breadth: 1 of 3 evidence-associated genes (33%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| PLA2G5 | 1 | 2 |
| C1QTNF5 | 0 | 0 |
| MFRP | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| VARESPLADIB | 2 | PLA2G5 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| PLA2G5 | 43 | Binding:41, Functional:2 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
1 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.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| VARESPLADIB | 2 | PLA2G5 |
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 | 1 | PLA2G5 |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 2 | C1QTNF5, MFRP |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| C1QTNF5 | 0 | — |
| MFRP | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 5.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 5 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05355415 | Not specified | RECRUITING | Adaptive Optics Imaging of Outer Retinal Diseases |
| NCT03510234 | Not specified | UNKNOWN | Self-confidence Study in Patients With Argus II Artificial Retina |
| NCT04360291 | Not specified | UNKNOWN | Impact of Visual Field Restriction on Visual Exploration |
| NCT04419285 | Not specified | UNKNOWN | Mobility Protocol Adapted for Advanced Visually Impaired Subjects |
| NCT05179460 | Not specified | COMPLETED | A Study of Pentosan Polysulfate Sodium and the Development of Pigmentary Maculopathy and Pigmentary Retinopathy |