Congenital Stationary Night Blindness
Gene: CABP4
Congenital nonprogressive cone-rod synaptic disorder is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance. 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. More than 5 unrelated families reported.
Commonly found in CSNB cohorts eg PMID 33369259Created: 15 Oct 2022, 7:43 a.m. | Last Modified: 15 Oct 2022, 7:43 a.m.
Panel Version: 0.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427
Publications
Gene: cabp4 has been classified as Green List (High Evidence).
Publications for gene: CABP4 were set to
gene: CABP4 was added gene: CABP4 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CABP4 were set to Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427