Genotype-phenotype correlations in PRPH2-associated retinal dystrophy
Dr. Samuel McLenachan is the Senior laboratory scientist of the Ocular Tissue Engineering Laboratory which he co-founded at the Lions Eye Institute with MDFA Research Committee member and clinician-scientist Associate Professor Fred Chen. Dr McLenachan has established one of Australia’s largest retinal disease biobanks and provides DNA banking for the Australian Inherited Retinal Disease Registry. His current research focuses on gene therapies for inherited retinal diseases. Dr McLenachan’s work is driven by a strong focus on bridging the gap between laboratory discoveries and clinical solutions for people with vision-threatening conditions.
Dr. McLenachan seeks to deepen our understanding of PRPH2-associated retinal dystrophy through his MDFA funded research project. The investigators will study variations in the PRPH2 gene, along with other related genes (called ABCA4 and ROM1), to determine how the different mutations influence the clinical features of retinal dystrophy. Dr McLenachan and his team plan to use stem-cell models from people with PRPH2-associated retinal dystrophy to conduct their research.
PRPH2-associated retinal dystrophy is the third most common inherited retinal disease in Western Australia. The outcomes of Dr. McLenachan’s research may improve diagnosis and predictions of disease progression. Furthermore, the generation of stem-cell models from people with PARD may result in developing new therapies for the condition.
Published: 11 August, 2025
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