Terri McLaren, Rachel Paterson, Ling Hoffmann, Alex Hewitt, David Mackey, John DeRoach, Tina Lamey
To identify disease-causing mutations in families participating in the Australian Inherited Retinal Disease Register (AIRDR) and DNA Bank.
Microarray: DNA was presented to the fol-lowing genotyping microarrays (Asper Ophthalmics) from participants with the following diagnoses:ABCA4: Stargardt disease (n = 77), cone-rod dystro-phy (n = 22)ADRP: RP dominant (n = 50), RP of unknown inherit-ance (n = 21)ARRP: arRP (n = 21), RP of unknown inheritance (n = 50)Usher: Usher syndrome Type I (n = 6), Type II (n = 22), Type III (n = 9)LCA: Leber congenital amaurosis (n = 11)Sequencing: For selected participants, the following genes were bi-directionally sequenced: ABCA4, BEST1, NR2E3, PDE6B, PROM1, PRPH2, RHO, RPGR, RS1 and USH2A
Using the above methods, disease-causing mutations were found in participants with the follow-ing presenting diagnoses:adRP: PRPH2 (n = 5), PRPF3 (n = 2), RHO (n = 6), RP1 (n = 4), RP9 (n = 1)arRP: CRB1 (n = 5), NR2E3 (n = 2), PDE6B (n = 4), USH2A (n = 9)xlRP: RPGR (n = 1)RP of unknown inheritance: ABCA4 (n = 3), PDE6A (n = 1), PDE6B (n = 3), NR2E3 (n = 1), PROM1 (n = 5), RP1 (n = 2), USH2A (n = 19)Stargardt disease: ABCA4 (n = 51)cone-rod dystrophy: ABCA4 (n = 13), PRPH2 (n = 1)Usher syndrome: MYO7A (n = 5), USH2A (Type I n = 1, Type II n = 19, Type III n = 3)retinoschisis: RS1 (n = 10)Leber congenital amaurosis: CEP290 (n = 3), CRB1 (n = 2), GUY2CD (n = 1)Best disease: BEST1 (n = 5)In the case of microarray analysis, disease-causing mutations were identified with the following frequen-cies: ABCA4 (56%), ARRP (43%), Usher (63%), LCA (41%) and ADRP (15%).
DNA from 220 families was analysed. Disease-causing mutations were found in 187 indi-viduals. These mutations were observed in 18 different genes.