Figure 3. Pedigree, chromatograms and fundus pictures of the missense mutation c.3073A>G (p.R1025G).

In the pedigree, M sign represents a variant; +, a normal allele. In the chromatograms, the variation is marked with red cycle. OD and OS represent right and left eyes, respectively. This mutation was detected in a 1-year-old boy and it was inherited from his father. Fundus examination showed a peripheral fibrovascular proliferation with exudates in the right eye and microphthalmia with cataracts in the left eye. Fundus fluorescein angiography of his father (bottom) revealed an avascular peripheral retina (asterisk) and vascular looping in the right eye (arrows).