Night blindness, congenital stationary, type1i

Synonyms: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I

Summary

Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration (Stunkel et al., 2018). [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

GUCY2D
114 tests
Also known as: CACD, CACD1, CG-E, CORD5, CORD6, CSNB1I, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC, GUCY2D
Summary: guanylate cyclase 2D, retinal

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Blue color blindness
  Blue color blindness
  - MedGen UID: 57827
  - Concept ID: C0155017
  - Finding: Disease or Syndrome
  Abnormality of the eye
  See: Feature record | Search on this feature
- Night blindness
  Night blindness
  - MedGen UID: 10349
  - Concept ID: C0028077
  - Finding: Disease or Syndrome
  Abnormality of the eye
  See: Feature record | Search on this feature

Reviews

Clinical resources

Molecular resources

Consumer resources

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