Figure.

Genetic and clinical findings for arRP Pakistani families, MA88 and MA157. All individuals from family MA88 with a DNA sample underwent whole-genome genotyping except MA88-5 who was ascertained after genotyping was completed. MA88-3 and MA157-7 were selected to undergo exome sequencing. (A) Fundoscopy images obtained from MA88-11 (20 years old), MA88-8 (19 years old), and MA157-8 (17 years old) display clustered areas of intraretinal pigment on the periphery, macular-atrophy, and attenuation of arteries, while fundoscopy for unaffected MA157-6 (21 years old) was normal. Fundoscopy images for the males who all had bilateral cataracts are not displayed, because it was not possible to view the retina, optic disc, or macula. Pedigree drawing (B) of family MA88 and (C) family MA157. Squares represent males and circles females with filled symbols representing individuals with arRP and clear figures representing unaffected family members. Double lines denote consanguineous marriages. The asterisk symbol (*) above individuals from both families MA88 and MA157 indicates members who were examined and vision tests were performed. Below each family member for which a DNA sample was available is shown their DHX38 c.971G>A genotype.