Ectopia Lentis Et Pupillae

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Ectopia Lentis Et Pupillae

  • Cataract
  • Visual impairment
  • Myopia
  • Dilatation
  • Glaucoma
  • Congenital cataract
  • Astigmatism
  • Retinal detachment
  • High myopia
  • Ectopia lentis

And another 4 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Ectopia Lentis Et Pupillae Is also known as ectopia lentis with ectopia of pupil.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Ectopia Lentis Et Pupillae Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ADAMTSL4.

By Institute for Human Genetics University Clinic Freiburg (Germany).

ADAMTSL4
Specificity
100 %
Genes
100 %
ADAMTSL4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ADAMTSL4
Specificity
100 %
Genes
100 %
Familial ectopia lentis (sequence analysis of ADAMTSL4 gene).

By CGC Genetics (Portugal).

ADAMTSL4
Specificity
100 %
Genes
100 %
Familial ectopia lentis (sequence analysis of ADAMTSL4 gene).

By CGC Genetics (Portugal).

ADAMTSL4
Specificity
100 %
Genes
100 %
Autosomal Recessive Isolated Ectopia Lentis-2 via ADAMTSL4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ADAMTSL4
Specificity
100 %
Genes
100 %
Ectopia lentis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

ADAMTSL4, FBN1
Specificity
50 %
Genes
100 %
Ectopia lentis NGS panel.

By Connective Tissue Gene Tests (United States).

ADAMTSL4, FBN1
Specificity
50 %
Genes
100 %
Ectopia lentis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

ADAMTSL4, FBN1
Specificity
50 %
Genes
100 %

We have 32 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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