Ectopia lentis et pupillae

Ectopia lentis et pupillae

The Ectopia lentis et pupillae is a rare genetic syndrome, congenital, autosomal recessive with variable expression, characterized by ectopia of the lens and the pupil, usually bilateral and symmetrical, but without systemic manifestations. The pathogenesis of this anomaly is still unknown, but there are theories that the change is mesodermal, neuroectodermal, combined or mechanical. This artic...

Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.

Two sib pairs and a fifth child are described with autosomal recessive ectopia lentis et pupillae. Patients with this disorder need regular ophthalmic review, but do not have the skeletal and metabolic complications associated with other syndromes with ectopia lentis.

Ectopia lentis et pupillae syndrome in three generations.

In nine members from three generations and in a distant relative, at least three significant characteristics of the ectopia lentis et pupillae syndrome were established including ectopia lentis, ectopia pupillae, persistent pupillary membrane, iris transillumination, and poor pupillary dilatation. All patients developed bilateral cataract before the age of 40 years, and two patients presented w...

A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.

PURPOSE To examine the ocular malformations and identify the molecular genetic basis for autosomal recessive ectopia lentis et pupillae in five Norwegian families. METHODS Ten affected persons and 11 first-degree relatives of five Norwegian families underwent ophthalmic and general medical examination. Molecular genetic studies included homozygosity mapping with SNP markers, DNA sequencing, a...

Some Observations on Ectopia Lentis