Fig. 4
Phenotype of CIC03953 who carries a compound heterozygous mutation in EYS. (a) Pedigree of family 1819. Visual acuity is 20/50 with −2.50 (−0.25)25° in the right eye and 20/80 with −2.50 (−0.75)170° in the left eye. Kinetic perimetry shows a bilateral central scotoma. Color fundus photographs (b) show bilateral optic disc pallor, retinal vessels narrowing and macular pigmentary deposits. Infra-red (c), infra-red autofluorescence (d) and blue autofluorescence imaging (e) highlight macular pigmentary and atrophic changes. SD-OCT (f) reveals a predominant central involvement with a disruption of the outer retinal layers limited in the fovea. ERG (g) revealed unusual features in association for EYS mutations: under scotopic conditions, there was no detectable b-wave in response to a dim (0.01 cd.s.m−2) flash while responses to a bright flash showed some reduction of the a-wave but additional b-wave reduction leading to an electronegative waveform. Photopic responses were severely affected in keeping with cone-rod dysfunction with additional inner retinal dysfunction