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.
GLISTENINGS IN INTRAOCULAR LENSES IN AUSTRALIA AND NEW ZEALAND- A COLLABORATIVE SURGICAL QUALITY AUDIT OVER THE 24 MONTH PERIOD UP TO FEBRUARY 2017. FINDINGS OF THIS AUDIT OF LENSES IMPLANTED BETWEEN 1995 AND 2016, HIGHLIGHT THE ONGOING PRESENCE AND SEVERITY OF VACUOLES EVEN IN THE MOST RECENTLY IMPLANTED LENSES.