Glaucoma Secondary To Spherophakia/ectopia Lentis And Megalocornea

Description

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.

Clinical Features

Top most frequent phenotypes and symptoms related to Glaucoma Secondary To Spherophakia/ectopia Lentis And Megalocornea

  • High palate
  • Visual impairment
  • Hypertension
  • Myopia
  • Pectus excavatum
  • Glaucoma
  • Hypermetropia
  • Arachnodactyly
  • Retinal detachment
  • Tall stature

And another 14 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

Glaucoma Secondary To Spherophakia/ectopia Lentis And Megalocornea Is also known as megalocornea-spherophakia-secondary glaucoma syndrome.

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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Glaucoma Secondary To Spherophakia/ectopia Lentis And Megalocornea Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Optic Atrophy and Early Glaucoma Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
LTBP2. Complete sequencing.

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

LTBP2
Specificity
100 %
Genes
100 %
MYOC, CYP1B1, LTBP2, OPTN. NextGeneDx.Complete sequencing by NGS.

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

OPTN, CYP1B1, LTBP2, MYOC
Specificity
25 %
Genes
100 %
Primary Congenital Glaucoma (sequence analysis of LTBP2 gene).

By CGC Genetics (Portugal).

LTBP2
Specificity
100 %
Genes
100 %
Primary Congenital Glaucoma via LTBP2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LTBP2
Specificity
100 %
Genes
100 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC4A4, ATOH7, OPTN, MFRP, COL4A1, COL8A1, COL8A2, CYP1B1, SH3PXD2B, WDR36, FOXC1, LMX1B, LTBP2, MYOC, OPTC, PAX6, PITX2
Specificity
6 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RYR1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCD, SGCG, BRAF, SLC25A4, SNTA1, SOS1, SREBF2, TAZ, TBX3, TBX5, TCAP, TGFB2, TGFB3 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Weill-Marchesani syndrome NGS panel.

By Connective Tissue Gene Tests (United States).

ADAMTS10, ADAMTS17, FBN1, LTBP2
Specificity
25 %
Genes
100 %

We have 36 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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