Subscribe to Newsletter
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.

0215-206-main

In order to determine NTE’s role in the retina, the study authors established that NTE is expressed in photoreceptors of both Drosophila and mice by immunihistochemistry, and that knocking out PNPLA6 in Drosophila results in photoreceptor neuron death. PNPLA6-/- mouse embryos fail to develop past E8.5, but the study authors hope to generate and characterize a photoreceptor-specific PNPLA6-/- knockout mouse in the future. They suggest that “NTE is essential for vision and photoreceptor biology”, and that “mutations in PNPLA6 cause photoreceptor neuron death and blindness in children with OMS and LCA” (1).

Receive content, products, events as well as relevant industry updates from The Ophthalmologist and its sponsors.

When you click “Subscribe” we will email you a link, which you must click to verify the email address above and activate your subscription. If you do not receive this email, please contact us at [email protected].
If you wish to unsubscribe, you can update your preferences at any point.

  1. S. Kmoch et al., “Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness”, Nat Commun., Epub ahead of print, (2015). PMID: 25574898.
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.

Product Profiles

Access our product directory to see the latest products and services from our industry partners

Here
Register to The Ophthalmologist

Register to access our FREE online portfolio, request the magazine in print and manage your preferences.

You will benefit from:
  • Unlimited access to ALL articles
  • News, interviews & opinions from leading industry experts
  • Receive print (and PDF) copies of The Ophthalmologist magazine

Register

Disclaimer

The Ophthalmologist website is intended solely for the eyes of healthcare professionals. Please confirm below: