Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa
Methods. This study adhered to the tenets of the Declaration of Helsinki and has been
approved by the Shifa College of Medicine and Shifa International Hospital institutional
review boards. In most of the 23 families, there was consanguinityinvolvingfirst-
cousinmarriages. Furthermore, in the nonconsanguineous families, most marriages were
between individuals from the same ethnic group. Most of the families have more than 5
affected individuals with RP. In all 23 families, the onset of the disease was in the first or …
approved by the Shifa College of Medicine and Shifa International Hospital institutional
review boards. In most of the 23 families, there was consanguinityinvolvingfirst-
cousinmarriages. Furthermore, in the nonconsanguineous families, most marriages were
between individuals from the same ethnic group. Most of the families have more than 5
affected individuals with RP. In all 23 families, the onset of the disease was in the first or …