It should be noted that 15 probands (10 MD and 5 CD/CRD) were found to harbor > 2 ABCA4 variants, and in 3 of them 2 variants were in cis configuration, as confirmed by the family segregation study: patients MD-8 and MD-31, affected by MD (Table S2), and patient CD/CRD-10, affected by CD/CRD (Table S3). Here, ABCA4 is linked to Menkes disease.