Table 1.
Patient Demographic, Clinical, and Genetic Data
| BCVA (logMar) | |||||||
|---|---|---|---|---|---|---|---|
| ID | Gender | Age (y) | Race/Ethnicity | OD | OS | Group | ABCA4 Variants |
| 1 | F | 22 | White | 0.7 | 0.8 | 3 | c.2915C>A p.(Thr972Asn); c.6079C>T p.(Leu2027Phe) |
| 2 | F | 18 | White | 0.8 | 0.8 | 2 | c.3322C>T p.(Arg1108Cys); c.4234C>T p.(Gln1412*) |
| 3 | F | 58 | White | 0.6 | 0.6 | 3 | c.5603A>T p.(Asn1868Ile); c.6229C>T p.(Arg2077Trp) |
| 4 | M | 26 | White | 0.5 | 0.5 | 2 | c.161G>A p.(Cys54Tyr); c.5196+1137G>A p.[=,Met1733Glufs*78] |
| 5 | M | 18 | White | 1.3 | 1.3 | 3 | c.[1622T>C;3113C>T] p.([Leu541Pro;Ala1038Val]); c.5603A>T p.(Asn1868Ile) |
| 6 | F | 30 | White/Indian | 0.7 | 0.6 | 1 | c.634C>T p.(Arg212Cys); c.5882G>A p.(Gly1961Glu) |
| 7 | F | 31 | African American | 0.9 | 0.9 | 2 | c.2971G>C p.(Gly991Arg); c.3413T>C p.(Leu1138Pro) |
| 8 | F | 17 | White | 0.9 | 0.7 | 2 | c.4139C>T p.(Pro1380Leu); c.5714+5G>A p.[=,Glu1863Leufs*33] |
| 9 | M | 30 | White | 0.3 | 0.3 | 2 | c.3007C>T p.(Gln1003*); c.[3758C>T;5882G>A] p.([Thr1253Met;Gly1961Glu]) |
| 10 | M | 13 | White | 1.3 | 1.3 | 3 | c.[1622T>C;3113C>T] p.([Leu541Pro;Ala1038Val]); c.5603A>T p.(Asn1868Ile) |
| 11 | M | 14 | White | 0.4 | 0.9 | 3 | c.2918+5G>A p.(?); c.2966T>C p.(Val989Ala) |
| 12 | M | 16 | White | 0.7 | 0.9 | 2 | c.3292C>T p.(Arg1098Cys); c.[5461-10T>C;5603A>T] p.(Thr1821Aspfs*6) |
| 13 | F | 39 | White | 0.3 | 0.8 | 3 | c.5351T>G p.(Leu1784Arg); c.6449G>A p.(Cys2150Tyr) |
| 14 | M | 17 | White | 0.4 | 0.6 | 1 | c.1844T>C p.(Val615Ala); c.5882G>A p.(Gly1961Glu) |
| 15 | F | 23 | White | 0.7 | 0.6 | 1 | c.5044_5058delGTTGCCATCTGCGTG p.(Val1682_Val1686del); c.5882G>A p.(Gly1961Glu) |
| 16 | M | 33 | White | 0.2 | 0.3 | 2 | c.4947delC p.(Glu1650fs*12); c.5882G>A p.(Gly1961Glu) |
| 17 | M | 18 | White | 0.7 | 0.7 | 2 | c.[2588G>C;5603A>T] p.([Gly863Ala, Gly863del;Asn1868Ile]); c.5316G>A p.(Trp1772*) |
| 18 | M | 13 | White | 0.8 | 0.8 | 2 | c.[1622T>C;3113C>T] p.([Leu541Pro;Ala1038Val]); c.6079C>T p.(Leu2027Phe) |
| 19 | M | 18 | White | 0.3 | 0.4 | 3 | c.[1622T>C;3113C>T] p.([Leu541Pro;Ala1038Val]); c.6079C>T p.(Leu2027Phe) |
| 20 | M | 33 | Indian | 0.6 | 0.5 | 1 | c.1957C>T p.(Arg653Cys); c.5882G>A p.(Gly1961Glu) |
| 21 | M | 38 | Indian | 0.6 | 0.8 | 2 | c.859-9T>C p.([=,Phe287_Arg452del]); c.859-9T>C p.([=,Phe287_Arg452del]) |
| 22 | M | 52 | White | 0.2 | 0.2 | 3 | c.1522C>T p.(Arg508Cys); c.4224G>A p.(Trp1408*) |
| 23 | F | 37 | White | 0.9 | 0.9 | 3 | c.4139C>T p.(Pro1380Leu); c.5882G>A p.(Gly1961Glu) |
| 24* | M | 33 | White | 0.5 | 0.3 | 3 | c.[3758C>T;5882G>A] p.([Thr1253Met;Gly1961Glu]); nd |
| 25 | M | 28 | White | 0.6 | 0.6 | 3 | c.4139C>T p.(Pro1380Leu); c.5882G>A p.(Gly1961Glu) |
| 26 | M | 28 | White | 0.9 | 0.9 | 2 | c.[5461-10T>C;5603A>T] p.(Thr1821Aspfs*6); c.5882G>A p.(Gly1961Glu) |
BCVA, best corrected visual acuity.
*
One disease-causing allele identified.