Song et al. (2017) reviewed 30 Lowe syndrome patients with congenital cataracts and glaucoma and correlated these eye abnormalities with clustering of missense and deletion OCRL gene mutations in the 5-phosphatase and RhoGap-like domains. In thrombocytes, Ocrl1 expression and function primarily affects thrombocyte shape for clot formation (Egot et al., 2021; Bura et al., 2023), so cell phenotype in thrombocytes may be less complex to study. The gene discussed is OCRL; the disease is oculocerebrorenal syndrome.