Nanophthalmos 4; Nno4

Description

Nanophthalmos is characterized by axial lengths of the ocular globe that are more than 2 SDs smaller than the normal range, or less than 20 mm in adults, with a cornea and lens that are typically of normal size, associated with severe hyperopia (farsightedness) of +7.00 diopters or more. The smaller dimensions of the anterior chamber depth cause the iridocorneal angle to be typically narrow. Abnormal thickening of the scleral connective tissue is often observed (summary by Awadalla et al., 2014).For a discussion of genetic heterogeneity of nanophthalmos, see NNO1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Nanophthalmos 4; Nno4

  • Edema
  • Microphthalmia
  • Glaucoma
  • Reduced visual acuity
  • Hypermetropia
  • Drusen
  • Macular edema
  • Vascular tortuosity
  • Optic disc drusen
  • Scleral thickening

Incidence and onset information

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

Alternative names

Nanophthalmos 4; Nno4 Is also known as nanophthalmia 4.

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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Nanophthalmos 4; Nno4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Developmental Eye Disease panel.

By Molecular Vision Laboratory (United States).

BMP4, SHH, SIX3, SIX6, SLC25A1, SNX3, SOX2, SOX3, ELP4, VAX1, ATOH7, RAB18, ZEB2, CASK, RAB3GAP1, RAB3GAP2, FKRP, MFRP, RAX, NAA10 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
TMEM98.

By Fulgent Genetics Fulgent Genetics (United States).

TMEM98
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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