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late-onset retinal degeneration (LORD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

late-onset retinal degeneration

MONDO:0011579

Also known as:LORDautosomal dominant late-onset retinal degenerationpigmentary retinopathy

Find Clinical TrialsTrials

Overview

Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.

GeneticsAutosomal dominant · C1QTNF5 (chr 11)

Clinical Trials2 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Visual loss, Choroidal neovascularization, Retinal degeneration, and Sub-RPE deposits and 4 more.

Organ System	Phenotype Count	Example Features
Eyes	3	Retinal degeneration, Adult-onset night blindness, Damage to the retina (retinopathy)

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Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

C1QTNF5 encodes C1q and TNF related 5 (243 aa). Highest expression in Artery Aorta (1.7 TPM) and Cervix Ectocervix (1.7 TPM).

Late-onset retinal degeneration is associated with mutations in the C1QTNF5 gene on chromosome 11.

C1QTNF5 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for C1QTNF5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for late-onset retinal degeneration has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions and medical devices. Research is primarily sponsored by academic and government institutions.

65 publications have been identified in PubMed for late-onset retinal degeneration. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (15%), and Other (9%).

Research Type	Count	% of Total
Patient case studies	37	57%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605670

Orphanet

European rare disease database

Orphanet:67042

GARD

Genetic and Rare Diseases Info Center

GARD:4357

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for C1QTNF5, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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late-onset retinal degeneration

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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