Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome

Description

Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome is a rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, ocassionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated.

Clinical Features

Top most frequent phenotypes and symptoms related to Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome

  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Visual impairment
  • Myopia
  • Microphthalmia
  • Depressivity
  • Reduced visual acuity
  • Autistic behavior
  • Coloboma

And another 19 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome Is also known as foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism, fhonda syndrome, foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis, fhonda.

Researches and researchers

Doctors, researchs, and experts related to Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome extracted from public data.

Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome Experts map



Current Researchs and researchers

  • GENT — Dr Bart P LEROY

    Clinical expert - Principal investigator of clinical trial - Investigator of research project - Contact person of patient organisation

    • Institution/s:
      — Ghent University Hospital, Center for Medical Genetics Gent
      — Ghent University Hospital - UZGent
      — Ghent University Hospital - UZGent
    • Research area/topic::

      Study of candidate genes for anterior segment dysgenesis.


  • MADRID — Dr Matías MORÍN RODRÍGUEZ

    Investigator of research project

    • Institution/s:
      — Hospital Universitario Ramón y Cajal
    • Research area/topic::

      Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition



Mendelian

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Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics (Portugal).

BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1
Specificity
6 %
Genes
100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes).

By CGC Genetics (Portugal).

BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1
Specificity
6 %
Genes
100 %
Isolated Foveal Hypoplasia Type 2 (FVH2) via SLC38A8 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC38A8
Specificity
100 %
Genes
100 %
Hypopigmentation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SNAI2, SOX10, TYR, TYRP1, HPS3, HPS4, SLC45A2, HPS5, DTNBP1, HPS6, LYST, GPR143, SLC24A5, BLOC1S3, LRMDA, MLPH, EDN3, EDNRB, SLC38A8, HPS1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center (Germany).

BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)

View the complete list with 146 more genes
Specificity
1 %
Genes
100 %
Ocular / Oculocutaneous Albinism.

By MGZ Medical Genetics Center (Germany).

TYR, TYRP1, SLC45A2, GPR143, SLC24A5, LRMDA, SLC38A8, FRMD7, OCA2
Specificity
12 %
Genes
100 %
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome.

By MGZ Medical Genetics Center (Germany).

B3GLCT, COL4A1, COL4A2, CYP1B1, MIR184, SLC38A8, EYA1, FOXC1, FOXE3, LTBP2, ASPH, MYOC, PAX6, PITX2
Specificity
8 %
Genes
100 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC (Estonia).

BMP4, SIX6, SOX2, VAX1, VSX1, MFRP, RAX, VSX2, B3GLCT, SMOC1, CHD7, BCOR, COL4A1, CYP1B1, TENM3, STRA6, SLC38A8, EYA1, FOXC1, FOXE3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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