Ectopia lentis encompasses a continuum from mild lens subluxation to complete luxation into the anterior chamber or vitreous, with bilateral involvement typical of genetic forms. The diagnosis is usually made in early childhood, although lens dislocation may be present at birth; in mild cases the findings may not be recognised until adulthood.
Affected individuals typically present with hyperopic or myopic refractive errors, astigmatism, decreased visual acuity, and iridodonesis, and carry an increased risk of cataract, elevated intraocular pressure, and retinal detachment. Elevated intraocular pressure is documented in up to 20-25% of affected individuals, and acute pressure rises may accompany anterior subluxation of the lens. Both syndromic and non-syndromic presentations are clinically relevant: syndromic forms occur within multisystem connective-tissue or metabolic disease, whereas non-syndromic forms manifest as isolated lens displacement, sometimes accompanied by ectopia pupillae or congenital iris anomalies.
