Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.

Tomoko Sato Kazuki Kuniyoshi Takaaki HayashiHirokazu NishiwakiKei Mizobuchi Shunji Kusaka

Published in: Documenta ophthalmologica. Advances in ophthalmology (2024)

The siblings had clinical findings typical of CDSRR. High-intense flash ERG is recommended for identifying pathognomonic "squaring" a-waves in patients with CDSRR.

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intellectual disability