Preferred Label : Ectopia lentis et pupillae;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Ectopia lentis with ectopia of pupil;
Description : Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement
of the lenses and the pupils, associated with other ocular anomalies, but without
systemic manifestations. The condition is usually bilateral, with the lenses and pupils
displaced in opposite directions (summary by Cruysberg and Pinckers, 1995). Additional
signs include enlarged corneal diameter, increased corneal astigmatism, increased
anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle
malformation caused by enlarged iris processes, persistent pupillary membrane, loss
of zonular fibers, tilted disc, and increased axial length. Secondary manifestations
include refractive errors, glaucoma, early cataract development, and retinal detachment.
Membrane formation on the posterior aspect of the iris has been observed both in histologic
sections and on ultrasound biomicroscopy (summary by Christensen et al., 2010).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the ADAMTS-like 4 gene (ADAMTSL4, 610113.0003);
Prefixed ID : #225200;
Origin ID : 225200;
UMLS CUI : C1644196;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
