Ectopia lentis et pupillae
- Synonyms
- ECTOPIA LENTIS WITH ECTOPIA OF PUPIL
Summary
Excerpted from the GeneReview:The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae" as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Typical eye findings are dislocation of the lens, congenital abnormalities of the iris, refractive errors that may lead to amblyopia, and early-onset cataract. Increased intraocular pressure and retinal detachment may occur on occasion. Eye findings can vary within a family and between the eyes in an individual. In general, no additional systemic manifestations are observed, although skeletal features have been reported in a few affected individuals.
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Eyvind Rødahl
- Anne Elisabeth Christensen Mellgren
- Nils-Erik Boonstra
- view full author information
Available tests
28 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (28 available)
Clinical features
Help- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Congenital ectopic pupil
Congenital ectopic pupil
- MedGen UID: 224790
- Concept ID: C1271219
- Finding: Congenital Abnormality
Abnormality of the eye
- Ectopia lentis
Ectopia lentis
- MedGen UID: 41704
- Concept ID: C0013581
- Finding: Congenital Abnormality
Abnormality of the eye
- High myopia
High myopia
- MedGen UID: 78759
- Concept ID: C0271183
- Finding: Disease or Syndrome
Abnormality of the eye
- Iris transillumination defect
Iris transillumination defect
- MedGen UID: 786045
- Concept ID: C1096099
- Finding: Anatomical Abnormality
Abnormality of the eye
- Persistent pupillary membrane
Persistent pupillary membrane
- MedGen UID: 138009
- Concept ID: C0344541
- Finding: Congenital Abnormality
Abnormality of the eye
- Retinal detachment
Retinal detachment
- MedGen UID: 19759
- Concept ID: C0035305
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
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