Congenital stationary night blindness autosomal dominant 1

Synonyms: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED

Summary

Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene. [from MONDO]

Available tests

40 tests are in the database for this condition.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

RHO
118 tests
Also known as: CSNBAD1, OPN2, RP4, RHO
Summary: rhodopsin

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Bone spicule pigmentation of the retina
  Bone spicule pigmentation of the retina
  - MedGen UID: 323029
  - Concept ID: C1836926
  - Finding: Finding
  Abnormality of the eye
  See: Feature record | Search on this feature
- Congenital stationary night blindness
  Congenital stationary night blindness
  - MedGen UID: 83289
  - Concept ID: C0339535
  - Finding: Congenital Abnormality
  Abnormality of the eye
  See: Feature record | Search on this feature
- Decreased light- and dark-adapted electroretinogram amplitude
  Decreased light- and dark-adapted electroretinogram amplitude
  - MedGen UID: 326793
  - Concept ID: C1839025
  - Finding: Finding
  Abnormality of the eye
  See: Feature record | Search on this feature
- Visual field defect
  Visual field defect
  - MedGen UID: 854603
  - Concept ID: C3887875
  - Finding: Finding
  Abnormality of the eye
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

Consumer resources

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