Fig. 1.
Pedigrees of the analyzed SCD families
For every examined patient a corresponding identification number (#PatID format) together with a detected UBIAD1 allelic variant (wt– wild type, p.Thr120Arg – Pedigree no. 690 (a), p.Asp112Asn – Pedigree no. 411 (b), p.Asn102Ser – Pedigree nos. 149 and 272 (c and d)) are shown. Black symbols indicate affected, white symbols unaffected individuals, symbols with a diagonal line indicate deceased individuals, symbols with question mark indicate individuals not examined ophthalmologically, probands are marked with arrows