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Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.
Features include: Epiphora, Bone spicule pigmentation of the retina, Nyctalopia, and Progressive visual loss and 5 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Macular degeneration, Attenuation of retinal blood vessels |
Bones and joints |
SEMA4A function has not been fully characterized.
Cone-rod dystrophy 10 is associated with mutations in the SEMA4A gene on chromosome 1.
Genetic testing for SEMA4A is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for cone-rod dystrophy 10 has been reported in the published literature.
No clinical trials have been registered for cone-rod dystrophy 10.
54 publications have been identified in PubMed for cone-rod dystrophy 10. Research spans Epidemiology / Natural History (44%), Case Report / Case Series (19%), and Basic Science / Preclinical (17%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 24 | 44% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:32 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about cone-rod dystrophy 10
1 |
Bone spicule pigmentation of the retina |
Patient case studies
10 |
19% |
Laboratory research | 9 | 17% |
Testing and diagnosis research | 7 | 13% |
Research summaries | 2 | 4% |
New treatment approaches | 2 | 4% |
Takács Á (2026). [PMID: 41595520](https://pubmed.ncbi.nlm.nih.gov/41595520/). *Genes*. [Epidemiology / Natural History]
Josan AS (2026). [PMID: 41237986](https://pubmed.ncbi.nlm.nih.gov/41237986/). *American journal of ophthalmology*. [Epidemiology / Natural History]
Mahler EA (2026). [PMID: 41238926](https://pubmed.ncbi.nlm.nih.gov/41238926/). *Die Ophthalmologie*. [Diagnostic / Biomarker]
Dones AM (2026). [PMID: 41248229](https://pubmed.ncbi.nlm.nih.gov/41248229/). *Retina (Philadelphia, Pa.)*. [Epidemiology / Natural History]
Zhou Y (2026). [PMID: 41933583](https://pubmed.ncbi.nlm.nih.gov/41933583/). *Ophthalmol Retina*. [Epidemiology / Natural History]
Demirkol A (2026). [PMID: 41751276](https://pubmed.ncbi.nlm.nih.gov/41751276/). *Biomedicines*. [Gene Therapy / Novel Therapeutics]
Sahami M (2026). [PMID: 42234461](https://pubmed.ncbi.nlm.nih.gov/42234461/). *Hum Mol Genet*. [Basic Science / Preclinical]
Massengill MT (2026). [PMID: 41595470](https://pubmed.ncbi.nlm.nih.gov/41595470/). *Genes*. [Epidemiology / Natural History]
Romo-Aguas JC (2026). [PMID: 42022048](https://pubmed.ncbi.nlm.nih.gov/42022048/). *Ophthalmol Sci*. [Epidemiology / Natural History]
Khan AO (2026). [PMID: 41166683](https://pubmed.ncbi.nlm.nih.gov/41166683/). *Retina (Philadelphia, Pa.)*. [Epidemiology / Natural History]