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This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia.
Features include: Congenital ptosis, Ectopia lentis, Myopia, and Increased axial length of the globe.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Congenital ptosis |
Pregnancy and birth |
Biomarker and diagnostic research for blepharoptosis-myopia-ectopia lentis syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for blepharoptosis-myopia-ectopia lentis syndrome.
79 publications have been identified in PubMed for blepharoptosis-myopia-ectopia lentis syndrome. Research spans Clinical Trial Publication (32%), Case Report / Case Series (28%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Clinical study results | 25 | 32% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:12 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Congenital ptosis |
Patient case studies
22 |
28% |
Laboratory research | 12 | 15% |
Research summaries | 9 | 11% |
Disease patterns and progression | 8 | 10% |
Testing and diagnosis research | 2 | 3% |
New treatment approaches | 1 | 1% |
Alhemidan A (2026). [PMID: 41994245](https://pubmed.ncbi.nlm.nih.gov/41994245/). *Saudi J Ophthalmol*. [Case Report / Case Series]
Aydin FO (2026). [PMID: 41549238](https://pubmed.ncbi.nlm.nih.gov/41549238/). *BMC ophthalmology*. [Clinical Trial Publication]
Velamala IP (2026). [PMID: 41871893](https://pubmed.ncbi.nlm.nih.gov/41871893/). *Ophthalmic Genet*. [Review / Meta-Analysis]
Cohen SA (2026). [PMID: 41496654](https://pubmed.ncbi.nlm.nih.gov/41496654/). *Curr Opin Ophthalmol*. [Review / Meta-Analysis]
Liu Y (2026). [PMID: 41576855](https://pubmed.ncbi.nlm.nih.gov/41576855/). *European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology*. [Clinical Trial Publication]
Vaiano AS (2026). [PMID: 41525090](https://pubmed.ncbi.nlm.nih.gov/41525090/). *Journal of refractive surgery (Thorofare, N.J. : 1995)*. [Review / Meta-Analysis]
Tyvaert L (2026). [PMID: 41916683](https://pubmed.ncbi.nlm.nih.gov/41916683/). *Arch Dis Child*. [Diagnostic / Biomarker]
Wu HY (2026). [PMID: 41572998](https://pubmed.ncbi.nlm.nih.gov/41572998/). *International journal of ophthalmology*. [Basic Science / Preclinical]
Chen X (2026). [PMID: 41642055](https://pubmed.ncbi.nlm.nih.gov/41642055/). *Journal of cataract and refractive surgery*. [Clinical Trial Publication]
Perez Negron AP (2026). [PMID: 42189669](https://pubmed.ncbi.nlm.nih.gov/42189669/). *Retin Cases Brief Rep*. [Case Report / Case Series]