Study finds retinitis pigmentosa mutations:
This article was originally published in Clinica
Executive Summary
Two gene mutations for the inherited eye disease retinitis pigmentosa could lead to new screening and diagnostic tests for the condition, a Canadian study has revealed. The mutations, identified by investigators at the Research Institute of the McGill University Health Centre, in Montreal, Quebec, were associated with variable, severe forms of the disease and other neurological disorders, such as hearing loss. The findings appear in the American Journal of Ophthalmology (October). Around 1.5 million people worldwide are affected by retinitis pigmentosa, which causes vision loss and which has no cure.