Fig. 1

Pedigree of family CS08 and haplotype reconstruction for the mapped region on chromosome 2 and clinical evaluations of the proband in family CS08. a Affected and unaffected members are indicated by filled and open symbols respectively. The black arrow indicates the proband. Haplotypes for tested short tandem repeat (STR) markers and genotypes for LRP2 c.335, rs2683454 and rs2683454, are given for all participants. Black bars represent the ancestral haplotype associated with the disease. *Individuals on whom WES was performed, ^§Individuals on whom sanger sequencing was performed. Abbreviation: M1, mutation c.335A > G b Ocular positions and movements. White arrow, exotropia phenotype of right eye. c Fundus photograph of right eye. d Ocular MRI. e–f Brain MRI for patient III:19