congenital stationary night blindness 1H

Congenital stationary night blindness 1H is a vision disorder that primarily affects the ability to see in low-light conditions from birth. It is caused by mutations in the GNB3 gene, which plays a key role in the retinal signal transduction pathway. The condition is present from birth and remains non-progressive over time. Precise prevalence estimates are not well-established, and most individuals experience a stable course throughout life.

Individuals with congenital stationary night blindness 1H typically experience difficulties with adapting to low-light environments, which is often observed as nyctalopia. In addition, many affected individuals may exhibit hypermetropia and photophobia, along with mild myopia in a smaller subset of cases. That not all individuals experience all features, and severity varies considerably.

This condition is caused by mutations in the GNB3 gene. The GNB3 gene encodes a protein that is a critical subunit of the G protein complex involved in transmitting visual signals within the retina. Congenital stationary night blindness 1H is inherited in an autosomal recessive manner, meaning that an affected individual has inherited two mutated copies, one from each parent. Parents who are carriers typically do not show symptoms, and with both parents being carriers, there is approximately a 25% chance for each pregnancy to result in an affected child. Genetic counseling is recommended for families to understand these risks and options for family planning.

Currently, management focuses on supportive care and symptom management since there are no treatments specifically approved for congenital stationary night blindness 1H. Treatment is tailored to each individual and typically involves regular ophthalmologic evaluations to monitor visual function. Corrective lenses or other interventions may be used to help manage refractive errors and light sensitivity. Patients should discuss treatment options with their healthcare team and consider genetic counseling to better understand their specific condition and familial implications.

The course of congenital stationary night blindness 1H is generally stable, with vision-related symptoms that do not tend to worsen over time. Severity and specific features vary widely between individuals, so outcomes depend on factors such as symptom severity and access to appropriate ophthalmologic care. With current standards of care, many individuals enjoy good quality of life, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with genetic counselors and vision specialists for additional guidance and support.