A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)

Juanita Pappalardo, Rachael C. Heath Jeffery, Jennifer A. Thompson, Enid Chelva, Quang Pham, Ian J. Constable, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

3 results

Finished

Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases
Chen, F. (Investigator 01), Fletcher, S. (Investigator 02), McLenachan, S. (Investigator 03) & Cunningham, P. (Investigator 04)
NHMRC National Health and Medical Research Council
1/01/20 → 31/12/24
Project: Research
MRFF - Developing Personalised Treatment for Retinal Degeneration
Chen, F. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/18 → 31/12/21
Project: Research
Fred Chen
Chen, F. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/13 → 31/12/16
Project: Research