Fig. 4.

Fundus photographs, fundus autofluorescence images (FAF), spectral domain-OCTs (SD-OCT), full-field electroretinograms (ERG), and Goldman-Weekers dark adaptation curves (DA) of the left eye of patient V-7, performed at age 50, and carrier VI-6, performed at age 24, both of family 1. The ERGs were performed according to the standard International Society for Clinical Electrophysiology of Vision (ISCEV) protocol. Best-corrected visual acuity of the patient and carrier was 0.10 and 1.0, respectively. a Fundus photograph of patient V-7, showing peripapillary atrophy and pigment clumping with atrophic lesions in the macula. The patient has high myopia (S-9.0 D). The arrow denotes the position of the SD-OCT. The OCT signifies thinning of the fovea (158 μm), pigment clumping, and atrophy of the RPE. The FAF shows a high-density autofluorescent peri-macular ring. The ERG of this patient is shown at the left with traces of an age-related control person at right for purposes of comparison. Replications of the responses are shown as thin traces, the average as solid. Note the significantly reduced cone-specific responses with preserved rod responses. b Fundus photograph of carrier VI-4, showing a normal optic nerve and macula. The arrow denotes the position of the SD-OCT image. The OCT denotes a slightly reduced foveal thickness (232 μm), but an otherwise intact photoreceptor and RPE cell layer. FAF shows no abnormalities. The ERG is shown at the left with normal control traces at right. Replications of the responses are shown as thin traces, the average as solid. No abnormalities were present. c The DA-curves of patient V-7 (diamonds), carrier VI-4 (squares) and a normal control person (grey dots) with time (min) on the X-axis and threshold (dB) on the Y-axis. The cone plateau for the patient is elevated by ~1 log-unit. The S2 phase, i.e., the straight lines in the initial rod adaptation phase, has the same slope as the normal control although the level is 1 log-unit apart. The latter can be explained by the difficulty of the patient to observe the fixation mark due to his low vision. The threshold for the ERG response in the extended ISCEV ERG protocol was not elevated. The DA for the carrier did not differ from normal