autosomal dominant vitreoretinochoroidopathy

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare genetic disorder affecting the vitreous and retina, characterized by developmental anomalies of the eye. Affected individuals typically present with features such as microcornea, a shallow anterior chamber, glaucoma, and cataract, along with abnormal chorioretinal pigmentation. The condition is caused by pathogenic variants in the BEST1 gene and is inherited in an autosomal dominant pattern, meaning only one altered copy is sufficient to result in disease. It is very rare, affecting fewer than 1 in 1,000,000 people, and is generally recognized when ocular abnormalities are identified during clinical examinations.

The clinical features of autosomal dominant vitreoretinochoroidopathy primarily involve ocular abnormalities. Patients often present with developmental eye issues such as microcornea, a shallow anterior chamber, glaucoma, and cataract, along with distinctive abnormal pigmentation in the chorioretinal region. In addition, some individuals may experience visual disturbances including dyschromatopsia and microphthalmia, although these occur in a subset of patients. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the BEST1 gene, which plays a crucial role in the normal function of the retinal pigment epithelium. In autosomal dominant vitreoretinochoroidopathy, a single pathogenic variant in one copy of BEST1 is sufficient to cause the disorder. Because the condition follows an autosomal dominant pattern, an affected individual has a 50% chance of passing the variant on to their offspring. Genetic counseling is recommended to help families understand the implications and risks associated with this inheritance pattern.

Currently, management of autosomal dominant vitreoretinochoroidopathy focuses on supportive care and symptom management. As there are no FDA-approved or foundational therapies specifically indicated for this condition, treatment is individualized to address complications such as glaucoma and cataract through standard ophthalmologic care. A multidisciplinary team is often involved in monitoring and managing the condition, and patients are encouraged to discuss available treatment options with their healthcare team. Genetic counseling is also recommended to assist families in understanding the condition and exploring appropriate management strategies.

Outcomes for autosomal dominant vitreoretinochoroidopathy vary depending on the severity of ocular involvement and the effectiveness of early interventions. With current standards of care, many individuals maintain a good quality of life, though the condition may progress in some cases. Outcomes described in medical literature continue to evolve as standards of care improve, and there is a notable variability in clinical presentation. Families often find it helpful to connect with specialists and genetic counselors for ongoing support and guidance.