Figure 1.

Details of ARRP patient from Family A with a mutation in the TULP1 gene. A: Pedigree shows affected (dark symbols) and unaffected (open) symbols, with squares representing men and circles representing women. A double line connecting spouses denotes consanguinity. B: Sequence chromatogram of the TULP1 gene in normal control (top) and in patient A-1 (bottom) with homozygous mutation T>G (arrows), resulting in a codon change AAT (Asn) to AAG (Lys). The protein sequence alignment of TULP1 from different species (C) shows conservation of the Asn349 residue. Fundus photograph of right (D) and left (E) eyes of patient A-1 taken at age nine years shows greyish discoloration of the retina due to widespread RPE atrophy, severe arterial narrowing, disc pallor, and cellophane retinopathy due to a thin epiretinal membrane.