Initial sequencing was performed using a custom retinal disease capture panel that included the following FEVR-related genes: NDP, FZD4, LRP5, TSPAN12, ZNF408, and KIF11. Pathological mutations, as judged by various analytical approaches described in the Methods, were further validated by Sanger sequencing in each proband and his/her parents and siblings (if any). The gene discussed is TSPAN12; the disease is Abnormal retinal morphology.