Association of Autosomal Dominant Snowflake Vitreoretinal Degeneration with Retinoschisis.

Objective: To define and characterize the clinical association of autosomal dominant snowflake vitreoretinal degeneration (SVD) with retinochisis arising from a heterozygous Design: Affected individuals from 4 unrelated families underwent detailed ophthalmic examinations, multimodal retinal imaging, and electroretinography. Genetic testing using targeted next-generation sequencing panels and Sanger sequencing identified a heterozygous Subjects: Patients with inherited retinal degeneration are identified through genetic testing. Methods: Standard clinical diagnosis and imaging. In silico prediction of gene association and protein structure. Heterologous expression of protein through plasmid transfection followed by protein expression and electrophysiological analysis of function. Main Outcome Measures: Associations between clinical findings, in silico predictions, and molecular mechanism studies. Results: The Conclusions: This study identifies Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.