Interestingly, the retinal defect detected in the individual herein described is paralleled by a disorganized retinal structure, abnormal retinal lamination, and disrupted RPE pigmentation observed in smarca4 null zebrafish model (Zhang et al., 2014; Zhang, Bonilla, Chong, & Leung, 2013), suggesting that retinal dystrophy is indeed due to SMARCA4 defects. The gene discussed is SMARCA4; the disease is Retinal dystrophy.