Table 1 Clinical characteristics and genotypes of six inherited retinal disease patients with AluY insertion.
From: Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them
Patient ID | Sex | Initial symptom | Age at first symptom onset (yr) | Age at diagnosis (yr) | Clinical diagnosis | RP1 mutations | |
|---|---|---|---|---|---|---|---|
DNA | Amino acid | ||||||
11 | M | Color amblyopia | 14 | 31 | CD | c.[4052_4053ins328]; [5797 C > T] | p.[(Tyr1352AlafsTer9)]; [(Arg1933Ter)] |
41 | F | Decrease in visual acuity | unknown | 6 | RP | c.[4052_4053ins328]; [4196del;6353G > A] | p.[( Tyr1352AlafsTer9)]; [(Cys1399LeufsTer5;Ser2118Asn)] |
89 | F | Decrease in visual acuity, night blindness | 6 | 7 | RP | c.[4052_4053ins328]; [4196del;6353G > A] | p.[( Tyr1352AlafsTer9)]; [(Cys1399LeufsTer5;Ser2118Asn)] |
271 | F | Decrease in visual acuity, nystagmus | unknown | 14 | RP | c.[2398 A > T]; [4052_4053ins328] | p.[(Lys800Ter)]; [(Tyr1352AlafsTer9)] |
275 | F | Night blindness | 8 | 31 | RP | c.[4052_4053ins328]; [6181del] | p.[( Tyr1352AlafsTer9)]; [(Ile2061SerfsTer12)] |
289 | F | Decrease in visual acuity | 7 | 38 | RP | c.[4052_4053ins328]; [6181del] | p.[( Tyr1352AlafsTer9)]; [(Ile2061SerfsTer12)] |
