Diseases of the eye and adnexa
Autosomal recessive
17q12
Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities. [From Orphanet]
CSNB1E results from recessive mutations in the GPR179 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614565.1.1 | Lebanon | Male | Yes | Yes | Congenital stationary night blindness; ... Congenital stationary night blindness; Congenital stationary night blindness; Nystagmus  | NM_001004334.3:c.1807C>T | Homozygous | Autosomal, Recessive | Audo et al. 2012 | |
| 614565.1.2 | Lebanon | Female | Yes | Yes | Congenital stationary night blindness Congenital stationary night blindness | NM_001004334.3:c.1807C>T | Homozygous | Autosomal, Recessive | Audo et al. 2012 | Sibling of 614565.1.... |
| 614565.1.3 | Lebanon | Female | Yes | Yes | Congenital stationary night blindness; ... Congenital stationary night blindness; Reduced visual acuity | NM_001004334.3:c.1807C>T | Homozygous | Autosomal, Recessive | Audo et al. 2012 | Sibling of 614565.1.... |
| 614565.1.5 | Lebanon | Male | Yes | Electronegative electroretinogram Electronegative electroretinogram | NM_001004334.3:c.1807C>T | Heterozygous | Autosomal, Recessive | Audo et al. 2012 | Father of 614565.1.1 | |
| 614565.2 | Saudi Arabia | Unknown | No | Congenital stationary night blindness Congenital stationary night blindness | NM_001004334.4:c.864G>A | Homozygous | Autosomal, Recessive | Patel et al. 2016 |