Genetic cause for inherited eye disorder uncovered

A research team has been able to identify a key genetic factor behind the development of retinitis pigmentosa, an inherited eye disorder that can lead to blindness.

Scientists from Regensburg's Institute of Human Genetics, Washington University in St Louis and genomic analysis specialist Genomatix were able to document the role played by transcription factor Crx (Cone-rod homeobox) in the expression of certain retina-specific genes.

Through use of gene analyser technology, the researchers were able to identify nonsense mutations in the human FAM161A gene, which can lead to the development of RP28-associated recessive retinitis pigmentosa.

Dr Martin Seifert, a member of Genomatix's managing directors board, said; "Better understanding is the first step towards better diagnosis and opens perspectives for a potential therapy. But there is still a long way to go."

According to figures compiled by the British Retinitis Pigmentosa Society, the condition affects around one in 3,000 to 4,000 people, with symptoms commencing at various different ages.