For example, autosomal recessive mutations in the STRA6 gene–which encodes a high-affinity cell-surface receptor for retinol/retinol binding protein complexes that mediates the cellular uptake of retinol into the cell–cause syndromic microphthalmia as part of Matthew-Wood syndrome (microphthalmia, syndromic 9; OMIM #601186) 46. The gene discussed is CD177; the disease is microphthalmia.