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Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.
Biomarker and diagnostic research for ectopia lentis-chorioretinal dystrophy-myopia syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for ectopia lentis-chorioretinal dystrophy-myopia syndrome.
111 publications have been identified in PubMed for ectopia lentis-chorioretinal dystrophy-myopia syndrome. Research spans Review / Meta-Analysis (65%), Basic Science / Preclinical (16%), and Case Report / Case Series (7%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 72 | 65% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 5:36 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
18 |
16% |
Patient case studies | 8 | 7% |
Disease patterns and progression | 7 | 6% |
Clinical study results | 3 | 3% |
Testing and diagnosis research | 2 | 2% |
Other research | 1 | 1% |
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Clinical Trial Publication]
Dotan A (2025). [PMID: 39931017](https://pubmed.ncbi.nlm.nih.gov/39931017/). *Harefuah*. [Review / Meta-Analysis]
Gencer NS (2025). [PMID: 41291504](https://pubmed.ncbi.nlm.nih.gov/41291504/). *BMC Geriatr*. [Epidemiology / Natural History]
Borojeni S (2025). [PMID: 40546148](https://pubmed.ncbi.nlm.nih.gov/40546148/). *Rev Prat*. [Review / Meta-Analysis]
Pena C (2025). [PMID: 40146047](https://pubmed.ncbi.nlm.nih.gov/40146047/). *Minerva Med*. [Review / Meta-Analysis]
Shabshin G (2025). [PMID: 40261331](https://pubmed.ncbi.nlm.nih.gov/40261331/). *Orthopadie (Heidelb)*. [Review / Meta-Analysis]
AI-curated news mentioning ectopia lentis-chorioretinal dystrophy-myopia syndrome
Updated Jul 27, 2026
Research demonstrates that chiral nanoparticles can suppress inflammatory infiltration, aiding in extracellular matrix remodeling for ectopia lentis therapy. This innovative approach may enhance treatment options for patients with this condition.