Clinical Guidance

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. Variability in the eye findings described in detail in is observed among affected individuals in a family and even between eyes in the same individual. Presentation. The diagnosis of ectopia lentis is usually made in early childhood although dislocation of the lens may be present at birth . When ectopia lentis is accompanied by severe ectopia pupillae, the diagnosis is usually made at birth; in mild cases, the findings may not be recognized until adulthood.

Diagnostic Criteria

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. Variability in the eye findings is observed among affected individuals in a family and between the eyes of the same individual. No formal diagnostic criteria have been published.

Suggestive Findings

ADAMTSL4-related eye disorders should be suspected in individuals with the following characteristics:

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and the needs of an individual diagnosed with an ADAMTSL4-related eye disorder, routine ophthalmologic examination that includes the following is recommended if it has not already been completed:

Surveillance Guidelines

Assess visual acuity, refractive error, and intraocular pressure one to three times per year: adults who are stable may be examined yearly, whereas children require more frequent examinations. Ultrasonography may be necessary to evaluate for retinal detachment if the view of the fundus is limited.

Source: GeneReviews — "ADAMTSL4-Related Eye Disorders"