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GTR Home > Conditions/Phenotypes > Cone-rod synaptic disorder, congenital nonprogressive

Cone-rod synaptic disorder, congenital nonprogressive

Synonyms
Congenital stationary night blindness, type 2B; NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE

Summary

Congenital nonprogressive cone-rod synaptic disorder (CRSD) is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (Traboulsi, 2013; Khan, 2014). [from OMIM]

Available tests

46 tests are in the database for this condition.

Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRSD, CSNB2B, CABP4
    Summary: calcium binding protein 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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