Fig. 3.

Phenotype of CIC01571 who carries a homozygous nonsense mutation in C2Orf71, previously reported in RP. (a) Pedigree of family 1932. History of symptoms reveals initial photophobia and bilateral central vision loss. Visual acuity is reduced to hand motion in both eyes. Colour fundus photographs (b), infra-red (c) and blue autofluorescence imaging (d) confirm the predominant central involvement with severe bilateral macular atrophy. SD-OCT (e) shows the disappearance of the photoreceptor layers that extends beyond the vascular arcades. ERG responses (not shown) were undetectable from background noise in both scotopic and photopic conditions