Table 1 ABCA4 variants identified in BEM (Cases 1A to 1C are siblings)
CasesAgeVisual acuityAutofluorescence imaging patternElectrophysiological phenotypeABCA4 variants
OD
OS
1A336/121MDLeu661 ins1 ctG
6/12
1B246/361MDLeu1201Arg
6/36
1C356/601MDLeu1201Arg
6/60
2156/361MDGly1961Glu
6/36Cys1490Tyr
3396/61RCDVal552Ile
6/6
4316/91MDGly1961Glu
6/9Asn965Ser
5136/241CODIVS38-10T>C
6/24Cys2150Tyr
6426/601MDGln2238Stop
3/60Gly1961Glu
7436/122CORDGly991Arg
6/12
8156/62CORDAla1038Val
6/9
9663/602CORDGly1961Glu
3/60
10406/122MDVal1433Ile
6/60
11666/602MDPro940Arg
6/60
12526/93MDArg508Cys
6/9
13416/363MDThr1253Met
6/36
14286/123MDAla538Asp
6/18