Table 1 Summary of Clinical and Genetic Features of Individuals with L-ORD.
Family | Sample ID | Genotype | Protein | Status | Age of onset | Dark adaptation delay | Fundus appearance | ||
---|---|---|---|---|---|---|---|---|---|
drusenoid deposits | RPE atrophy | macular degeneration | |||||||
1 | IV:I | Heterozygous c.646G>T | p.G216C | Affected | late 50s | yes | yes | yes | yes |
IV:II | Heterozygous c.646G>T | p.G216C | Affected | early 50s | yes | yes | yes | yes | |
V:I | Heterozygous c.646G>T | p.G216C | Affected | mid-60s | yes | yes | yes | yes | |
V:III | Heterozygous c.646G>T | p.G216C | Affected | late 50s | yes | yes | yes | yes | |
V:VI | Heterozygous c.646G>T | p.G216C | Affected | mid-60s | yes | yes | no | no | |
V:VII | Heterozygous c.646G>T | p.G216C | Affected | mid-60s | yes | yes | no | no | |
2 | II:I | Heterozygous c.562C>A | p.P188T | Affected | mid-40s | yes | yes | yes | yes |
II:II | Heterozygous c.562C>A | p.P188T | Affected | mid-60s | yes | yes | yes | yes | |
II:III | Heterozygous c.562C>A | p.P188T | Affected | late 50s | yes | yes | no | no | |
3 | III:I | Heterozygous c.489C>A | p.S163R | Affected | mid-60s | yes | yes | yes | yes |