congenital stationary night blindness 1D

Congenital stationary night blindness 1D is an inherited condition that primarily affects the eyes and impairs the ability to see in low-light conditions. It is caused by mutations in the SLC24A1 gene, which plays an important role in retinal function. The condition is present from birth and is characterized by lifelong difficulty seeing in dim environments. Although precise prevalence data is not available, the consistent presentation of night blindness is the hallmark of this condition.

The key clinical feature of congenital stationary night blindness 1D is difficulty seeing in low-light conditions, a finding that is reported in all affected individuals. This visual impairment is usually evident from early childhood and leads families to seek evaluation and diagnosis. Not all individuals experience additional features outside of the core symptom, and severity can vary between individuals.

This condition is caused by mutations in the SLC24A1 gene. In congenital stationary night blindness 1D, the mutated gene disrupts normal retinal function, leading to impaired night vision. It is inherited in an autosomal recessive pattern, which means that an individual must receive two mutated copies of the gene, one from each parent, for the condition to manifest. This also implies that if both parents are carriers, there is a one in four chance with each pregnancy that the child will be affected. Genetic counseling is recommended for families who may be at risk.

Currently, management of congenital stationary night blindness 1D focuses on supportive care and symptom management. Since there are no specifically approved or foundational therapies linked to this condition, treatment is tailored to the individual and typically involves strategies to optimize visual function and adaptation. Patients and families are encouraged to work with a multidisciplinary team and a genetic counselor to explore options that may help improve quality of life and to address any concerns related to vision and daily activities.

The overall outlook for congenital stationary night blindness 1D is generally stable, as the condition is non-progressive in nature. With current standards of care, most individuals continue to experience the same level of visual difficulty throughout their lives, although the impact on daily activities can vary widely between individuals. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with specialists and genetic counselors for ongoing support and to discuss management strategies tailored to their individual needs.