Cornea Plana 2, Autosomal Recessive; Cna2

Description

Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996).For discussion of genetic heterogeneity of CNA, see CNA1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Cornea Plana 2, Autosomal Recessive; Cna2

  • Hypermetropia
  • Esotropia
  • Corneal arcus
  • Flat cornea
  • Accommodative esotropia
  • Decreased corneal thickness

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.

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.

Cornea Plana 2, Autosomal Recessive; Cna2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Anterior segment defects.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

PORCN, B3GLCT, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, KERA, LAMB2, PAX2, PAX6, PITX2, PITX3
Specificity
8 %
Genes
100 %
Cornea plana 2, autosomal recessive (sequence analysis of KERA gene).

By CGC Genetics (Portugal).

KERA
Specificity
100 %
Genes
100 %
Cornea plana 2, autosomal recessive (sequence analysis of KERA gene).

By CGC Genetics (Portugal).

KERA
Specificity
100 %
Genes
100 %
Corneal Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
KERA.

By Fulgent Genetics Fulgent Genetics (United States).

KERA
Specificity
100 %
Genes
100 %
Corneal Dystrophy Panel.

By Blueprint Genetics (Finland).

TACSTD2, TCF4, ZEB1, TGFBI, OVOL2, SLC4A11, COL17A1, COL5A1, COL8A2, CYP4V2, ZNF469, PIKFYVE, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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