Disease ID | Source | Name | Description |
617024 | OMIM | Night blindness, congenital stationary, 1H (CSNB1H) | A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |