congenital stationary night blindness 1C

Congenital stationary night blindness 1C is a non-progressive vision disorder characterized by difficulties in seeing in low-light conditions and reduced visual acuity. It is caused by mutations in the TRPM1 gene, which is important for proper signal transmission in the retina. The condition is present from birth and follows an autosomal recessive inheritance pattern, meaning that an affected individual inherits two mutated copies of the gene. Although precise prevalence data are not available, the condition is recognized as a congenital abnormality of vision with a stable clinical course over time.

The clinical presentation of congenital stationary night blindness 1C is defined by several characteristic features. All affected individuals exhibit reduced visual acuity, congenital stationary night blindness, and an abnormal electroretinogram, which reflects altered retinal function. In addition, many individuals experience myopia, while strabismus, nystagmus, and dry skin are reported in a subset of cases. Not all individuals experience all features, and severity varies considerably, with the overall course of the vision impairment remaining stable throughout life.

This condition results from mutations in the TRPM1 gene, a key component in the process of retinal signal transmission. It is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) to manifest the condition. Families with an affected child may benefit from genetic counseling to better understand carrier status and recurrence risks in future pregnancies.

Currently, management for congenital stationary night blindness 1C focuses on supportive care and symptom management since there are no FDA-approved or foundational therapies specifically for this condition. Treatment plans are individualized and may include corrective lenses or other vision aids, along with regular ophthalmologic evaluations to monitor visual function. Given the inherited nature of the condition, genetic counseling is also recommended to provide families with guidance for family planning and understanding recurrence risks.

The outlook for individuals with congenital stationary night blindness 1C is generally favorable as the condition is non-progressive and remains stable over time. Although visual challenges are a lifelong concern, many individuals maintain a functional quality of life, and outcomes vary depending on the severity of symptoms and access to supportive care. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with inherited eye disorders and to consult with genetic counselors for further guidance.