THE BELGIAN OPHTHALMIC ASSOCIATIONS
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This abstract is assigned to session BOG-SBO 1 Medische retina/ Rétine médicale
| Title | High-throughput genotyping for molecular diagnosis of retinal dystrophies |
| Abstract Nr. | A1024 |
| Purpose | The recent substantial increase in the number of retinal dystrophy genes has forced geneticists to develop strategies to deal with screening of high numbers of DNA samples for many, often large, genes. Here, results of screening with one such strategy in patients with either Leber congenital amaurosis (LCA) or Stargardt disease (STGD) are presented. |
| Methods | DNA of 52 LCA patients and 11 STGD patients was screened with the Arrayed Primer Extension (APEX) method. This analysis, performed by Asper Biotech®, Estonia, identifies all known mutations in all screened genes. Genes examined for LCA included CRB1, GUCY2D, RPE65, CRX, RPGRIP1 & AIPL1. In STGD patients, ABCA4 was screened. All patients underwent a comprehensive ophthalmological, psychophysical & electrophysiological examination. |
| Results | At least 1 mutation was identified in 16 of 52 LCA patients (31%). The total number of LCA alleles identified was 23/104 (22%). In STGD patients, at least 1 mutation was identified in all 11 patients (100%). The total number of STGD alleles identified was 20/22 (91%). |
| Conclusion | High-throughput techniques are invaluable tools for rapid mutation detection screening when several large genes need to be screened in large cohorts of patients. Furthermore, mutation detection with APEX allows for more carefully directed efforts of subsequent sequencing analysis, leading to a more economical use of resources. |
Author 1
| Last name | BERGHMANS |
| Initials | LV |
| Department | Ghent Univ Hospital |
| City | Ghent |
Author 2
| Last name | DE BAERE |
| Initials | E |
| Department | Ghent Univ Hospital |
| City | Ghent |
Author 3
| Last name | PAPAIOANNOU |
| Initials | M |
| Department | Inst of Ophthalmology |
| City | London |
Author 4
| Last name | BHATTACHARYA |
| Initials | SS |
| Department | Inst of Ophthalmology |
| City | London |
Author 5
| Last name | AYUSO |
| Initials | C |
| Department | Fund Jimenez Diaz |
| City | Madrid |
Author 6
| Last name | DE LAEY |
| Initials | JJ |
| Department | Ghent Univ Hospital |
| City | Ghent |
Author 7
| Last name | ALLIKMETS |
| Initials | RL |
| Department | Columbia Univ |
| City | New York |
Author 8
| Last name | MEIRE |
| Initials | FM |
| Department | Ghent Univ Hospital |
| City | Ghent |
Author 9
| Last name | CREMERS |
| Initials | FPM |
| Department | Radboud Univ Nijmegen |
| City | Nijmegen |
Author 10
| Last name | LEROY |
| Initials | BP |
| Department | Ghent Univ Hospital |
| City | Ghent |