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GTR Home > Tests > Retinal dystrophy panel. 260 gene NGS panel.

Retinal dystrophy panel. 260 gene NGS panel.

  • GTR Test IDHelp: GTR000597130.1
  • Last updated: 2021-11-30
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Cone-rod dystrophy 3
Offered by Genologica Medica

Indication

This is a clinical test intended for Help: Mutation Confirmation, Diagnosis

Clinical summary

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Imported from OMIM

Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by Klevering et al., 2002 and Ducroq et al., 2002). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced (Fishman et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Central scotoma
  • Color vision defect
  • Peripheral visual field loss
  • Optic disc pallor
  • Bull eye maculopathy
  • Attenuation of retinal blood vessels
  • Visual loss
  • Electronegative electroretinogram
  • Cone/cone-rod dystrophy
  • Pigmentary retinopathy
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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