Table 2.
Segregation analysis from #1 and #3
| Patient | Fundus examination | Gene | Allele 1 | Allele 2 | |||
|---|---|---|---|---|---|---|---|
| Nucleotide change | Protein change | Nucleotide change | Protein change | ||||
| 1 | Daughter | Macular atrophy and pigmentary changes | RIMS1 | c.2093G>A | p.Arg698Gln | - | - |
| 3 | Mother | Narrow vessels and macula edema | CRB1 | c.613_619del | p.Ile205Asp fs*13 | c.408_506del | p.Ile167_Gly169del |