| Pedigree | Age (years) | Age (years) of onset | Visual acuity | Diagnosis | Allele 1 | Allele 2 | Segregation | |||
| OD | OS | Nucleotide changes (exons) | Amino acid change | Nucleotide changes (exons) | Amino acid change | |||||
| ARDM-135 | 42 | 24 | 0.4 | 0.6 | STGD | c.5882G>A(42) | p.Gly1961Glu | c.1029_1030insT(8) | p.Asn344fsX | NP |
| ARDM-240 | 15 | 13 | 0.2 | 0.16 | STGD | c.5882G>A(42) | p.Gly1961Glu | c.2285C>A(15) | p.Ala762Glu | Yes |
| ARDM-225 | 32 | 25 | 0.25 | 0.50 | STGD | c.5882G>A(42) | p.Gly1961Glu | c.6559C>T(48) | p.Gln2187X | Yes |
| ARDM-164 | 21 | 11 | NA | STGD | c.3386G>T(23) | p.Arg1129Leu | c.700C>T(6) | p.Gln234X | Yes | |
| ARDM-162 | 50 | 16 | 0.1 | 0.1 | STGD | c.3386G>T(23) | p.Arg1129Leu | ND | ND | Yes |
| ARDM-198 | 27 | 19 | 0.1 | 0.1 | STGD | c.3386G>T(23) | p.Arg1129Leu | ND | ND | NP |
| ARDM-125 | 31 | 9 | 0.3 | 0.4 | STGD | c.3211insGT(22) | FS | p.KNLFA1876dup | Yes | |
| ARDM-158 | 24 | 9 | 0.2 | 0.2 | STGD | c.3211insGT(22) | FS | c.4537delC(30) | p.Gln1513fsX1525 | NP |
| ARDM-165 | 40 | 30 | NA | STGD | c.3211insGT(22) | FS | ND | ND | NP | |
| ARDM-167 | 49 | 23 | 0.05 | 0.05 | STGD | c.3211insGT(22) | FS | ND | ND | NP |
| ARDM-146 | 32 | 13 | 0.06 | 0.1 | STGD | c.3056C>T(21) | p.Thr1019Met | c.6140T>A(44) | p.Ile2047Asn | Yes |
| ARDM-40 | 46 | 9 | 0.1 | 0.1 | STGD | c.3056C>T(21) | p.Thr1019Met | c.3943C>T(27) | p.Gln1315X | Yes |
| ARDM-90 | 26 | 8 | Hand moving | STGD | c.5929G>A (43) | p.Gly1977Ser | IVS21-2A>T | Yes | ||
| ARDM-181 | 57 | 16 | 0.1 | 0.09 | STGD | c.3323G>A (22) | p.Arg1108His | IVS38+5G>A | Yes | |
| ARDM-197 | 35 | 15 | 0.1 | 0.1 | STGD | c.4793C>A(34) (false +) | p.Ala1598Asp (false +) | c.5172G>T(36) | p.Trp1724Cys | Yes |
| ARDM-183 | 63 | 55 | 0.150 | 0.175 | STGD | c.6079C>T(44) | p.Leu2027Phe | c.5929G>A(43) (false –) | p.Gly1977Ser (false –) | NP |
| ARDM-38 | 35 | 6 | 0.01 | 0.02 | STGD | c.1804C>T(13) | p.Arg602Trp | c.4739delT(33) | p.Leu1580fs | Yes |
| ARDM-163 | 48 | 32 | 0.01 | 0.32 | STGD | c.4457C>T(30) | p.Pro1486Leu | ND | ND | Yes |
| ARDM-166 | 42 | 39 | NA | STGD | c.6320G>A(46) | p.Arg2107His | ND | ND | Yes | |
| ARDM-222 | 26 | 23 | NA | STGD | c.2791G>A(19) | p.Val931Met | ND | ND | NP | |
| ARDM-160 | 30 | 5 | 0.25 | 0.1 | STGD | ND | ND | ND | ND | Yes |
| ARDM-173 | 49 | 7 | NA | STGD | ND | ND | ND | ND | Yes | |
| ARDM-205 | NA | NA | NA | STGD | c.4919G>A(35) | p.Arg1640Gln | ND | ND | NP | |
| ARDM-247 | 30 | 12 | 0.05 | 0.1 | CRD | c.3386G>T(23) | p.Arg1129Leu | c.6410G>A(47) | p.Cys2137Tyr | Yes |
| ARDM-99 | 59 | 46 | 0.05 | 0.05 | CRD | c.4297G>A(29) | p.Val1433Ile | ND | ND | NP |
| ARDM-131 | 27 | 15 | 0.9 | 0.7 | CRD | c.2701A>G(18) | p.Thr901Ala | ND | ND | Yes |
| ARDM-100 | 28 | 4 | 0.2 | 0.16 | CRD | ND | ND | ND | ND | Yes |
| ARDM-142 | 30 | 25 | 0.8 | 0.5 | CRD | ND | ND | ND | ND | Yes |
| RP-773 | 38 | 20 | 0.05 | 0.05 | RP | c.33N86G>T(23) | p.Arg1129Leu | ND | ND | NP |
| RP-959 | 53 | 10 | 0.1 | 0.1 | RP | c.466A>G(5) | p.Ile156Val | ND | ND | Yes |
| RP-1058 | 37 | 6 | 0.2 | 0.6 | RP | c.4297G>A(29) | p.Val1433Ile | ND | ND | NP |
Twenty-seven out of 31 subjects were found to be compound heterozygous for mutations in the ABCA4 gene detected by microarray. These mutations were confirmed by the denaturing high-performance liquid chromatography (dHPLC) technique and sequencing analysis. In patients from families ARDM-135, ARDM-240, ARDM-225, ARDM-164, ARDM-125, ARDM-158, ARDM-146, ARDM-40, ARDM-90, ARDM-181, ARDM-197, ARDM-183, ARDM-38 and ARDM-247, the second mutation was found by dHPLC (in bold).
FS, frameshift; NA, not available; ND, not detected; NP, not performed; OD, right eye; OS, left eye.