Figure 3. Pedigrees of families with autosomal dominant familial exudative vitreoretinopathy (FEVR) and the mutations identified in LRP5. A: In Family 1, Patient 1 had two LRP5 mutations, c.1264G>A (p.A422T) from the affected father and c.2447A>C (p.Q816P) from unaffected mother. B: In Family 2, Patient 2 also had two LRP5 mutations; c.1619T>C (p.L540P) was from the affected mother, but c.2555C>T (p.T852M) was not detected in either parent. The columns from left to right display the pedigree and the sequence chromatograms for these patients. Squares, male; circles, female; closed, affected; open, unaffected.