isolated ectopia lentis
Findings
No curated finding names isolated ectopia lentis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.
Definition from the Mondo Disease Ontology (MONDO:0015998), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ectopia lentisHPOHP:0001083
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Malar flatteningHPOHP:0000272
- Frequent (30% to 79% of cases)
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
- AmblyopiaHPOHP:0000646
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Ectopia pupillaeHPOHP:0009918
- Occasional (5% to 29% of cases)
- HypertensionHPOHP:0000822
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
- Visual impairmentHPOHP:0000505
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
4 names
Resolves to: isolated ectopia lentis
- Also called
- ectopia lentis syndromefamilial ectopia lentisisolated lens position anomalynonsyndromic lens position anomaly