New gene for Leber congenital amaurosis

14 April 15

written by:

Ade Deane-Pratt

(more articles)

Faults in PNPLA6 lead to the death of light-sensitive cells in the eye.

An international research team has identified a new genetic cause of Leber congenital amaurosis (LCA). Faults in the gene known as PNPLA6 have been found in seven families with childhood blindness.

Leber congenital amaurosis is a family of rare inherited eye conditions that lead to severe sight loss. It is the most severe and earliest cause of sight loss in children.

The team found that faults in PNPLA6 lead to the death of light-sensitive cells (called ‘photoreceptors’) in a part of the eye called the retina. PNPLA6 is the 20th gene to be linked to LCA. The gene is also linked to an extremely rare condition called Oliver McFarlane syndrome that affects sight, growth, coordination and mental ability.

Early clinical trials have showed that gene therapy can safely and successfully restore some vision to people with one form of LCA.

Important for families

Dr Dolores M Conroy, Director of Research at Fight for Sight said: “Getting the right genetic diagnosis is very important for families with inherited eye disease as we know from the James Lind Alliance Sight Loss and Vision Priority Setting Partnership.

The research was published in the journal Nature Genetics.“With each gene that’s discovered, we have a potential new target for treatment such as gene therapy and the chance to develop a test that will give more families the clear diagnosis they need.”