Since most of her clinical features fitted the description of a well-reported syndrome, MRCS, which was characterized by microcornea, retinal dystrophy, cataract (whereas XFS in our case), posterior staphyloma and mutations in the BEST1 (also known as VMD2) and ARL2 gene, a blood sample was drawn and genomic DNA was analyzed after informed consent was obtained. The gene discussed is BEST1; the disease is inherited retinal dystrophy.