Congenital Aniridia with Ectopia Lentis

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...

Some Observations on Ectopia Lentis

Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis

PURPOSE To identify the spectrum and frequency of five candidate genes in Chinese patients with congenital ectopia lentis (EL). METHODS Forty consecutive and unrelated congenital probands with EL were collected and underwent ocular, skeletal, and cardiovascular examinations. Sanger sequencing was used to analyze all of the coding and adjacent regions of five candidate genes: FBN1, ADAMTS10, A...

How far is observation allowed in patients with ectopia lentis?

Surgical timing for ectopia lentis has not been well described until now. The purpose of this study is to find a benchmark as to how far observation would be allowed in children with ectopia lentis when they and their families are reluctant to go through surgery. Retrospective review was made on 15 consecutive patients (14 children and one adult) with ectopia lentis in both eyes, seen at a refe...

Familial ectopia lentis and its complications.

FAMILIAL ectopia lentis is a well recognized condition and is usually seen by the ophthalmologist in its fully developed stage. It was thought worth while to record this family, as some of the very earliest stages have been observed and the complications of the condition have been very varied. The family is a large one, spread over a large part of the Union of South Africa, and it has not been ...