Medicine and Health Sciences Commons^™

Molecular Confirmation Of The Causes Of Inherited Visual Impairment In Northern Pakistan., Mehreen Adhi, Yasmin Rashid, Syed Hussain Jafr, Chris F. Inglehearn, Martin Mc Kibbin

Department of Medicine

Families with inherited visual impairment were identified and examined from January 2000 to December 2005 and given a clinical diagnosis. Known genes and loci were screened for mutations or linkage at Institute of Ophthalmology and Neurosciences, University of Leeds, in order to provide molecular confirmation. Inherited retinal disease was the most common cause of inherited visual impairment in 38 of 57 families (66.6%) with Leber’s congenital amaurosis, rod-cone dystrophy and cone-rod dystrophy being the most common diagnoses in 22, 8 and 3 families respectively. Anterior segment dysgenesis was diagnosed in 8 families (14%). Mutations in known genes or linkage to …