Figure 2. Schematic Diagram of Initial Clinical Diagnosis and Molecular Diagnosis After Targeted Next-Generation Sequencing (NGS) in 48 Patients With Infantile Nystagmus Syndrome (INS).

The correct molecular diagnosis was made in patients with INS through NGS. CSNB indicates congenital stationary night blindness; IN, infantile nystagmus; LCA, Leber congenital amaurosis; OA, ocular albinism; and possible, possible molecular diagnosis.

^aAfter molecular diagnosis by targeted NGS, the initial clinical diagnosis was revised for some patients.