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Subspecialties Neuro-ophthalmology, Basic & Translational Research

Targeting Heritable Childhood Blindness

Researchers who performed a whole exome gene sequencing study on seven families with inherited retinal degeneration have identified a new gene that is thought to be responsible for some cases of Leber Congenital Amaurosis (LCA) and Oliver-McFarlane Syndrome (OMS): PNPLA6 (1). The gene is the first to be associated with OMS, and codes for the enzyme neuropathy target esterase (NTE) – a phospholipase that is thought to play a role in embryonic neurite outgrowth and process elongation during neuronal differentiation.

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About the Author

Mark Hillen

I spent seven years as a medical writer, writing primary and review manuscripts, congress presentations and marketing materials for numerous – and mostly German – pharmaceutical companies. Prior to my adventures in medical communications, I was a Wellcome Trust PhD student at the University of Edinburgh.

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