Fig. 2 - Phenotype of normal control (left) and the single affected sibling of family with parental consanguinity (right).

a.Kinetic perimetry

The kinetic fields are for the right eye in each subject using both V-4e and I-4e test targets.

 Kinetic perimetry

b. Dark-adapted static threshold perimetric profiles along the horizontal meridian for the central 60 degrees

For the normal, the lines delimit +/- 2 standard deviations from the mean normal using the 500 nm stimulus (rod-mediated detection, upper set) and a 650 nm stimulus at the cone plateau (cone-mediated detection, lower set). For the patient profiles, the curves describe the responses to the two different stimulus wavelengths used. Letters above the sensitivity measurements in the patient are the photoreceptor mediations for detection of the 500 and 650 nm stimuli: C = cone detection. N = nasal; T = temporal.

perimetric profiles

c. ERGs

Arrows indicate stimulus onset and calibrations are to the right and below the responses. ERGs