ID | Sex | Gene | Pedigree | c.DNA | Protein | Zygosity | Inheritance mode | Phenotype | Age of onset | Presenting symptom |
---|---|---|---|---|---|---|---|---|---|---|
P1 | F | PRPF8 | GC23684 | c.5804G > A | p.Arg1935His | Heterozygous | Autosomal Dominant | EOSRD | At Birth | Decreased vision |
P2 | F | PRPH2 | GC21703 | c.620_627delinsTA | p.Asp207_Gly208del | Homozygous | Autosomal Recessive | EOSRD | At Birth | Nystagmus |
P3‡ | F | RP1 | GC21938 | c.4147_4151delGGATT | p.Gly1383* | Homozygous | Autosomal Recessive | EOSRD | 6 months | Nystagmus |
P4‡ | M | RP1 | GC21938 | c.4147_4151delGGATT | p.Gly1383* | Homozygous | Autosomal Recessive | EOSRD | 7 months | Nyctalopia |
P5†| F | RPGR | GC17432 | c.1894_1897delGACA | p.Asp632Lysfs*4 | Heterozygous | X-linked | LCA/EOSRD | 4 months | Nystagmus |
C1†| F | RPGR | GC17432 | c.1894_1897delGACA | p.Asp632Lysfs*4 | Heterozygous | X-linked | Carrier | NA | Asymptomatic Screening at X years old |