Fig. 2

Ear audiograms and retinal phenotypes of proband IV: 1. a. Physiologic audiograms of both ears of proband IV:1. The audiograms reveal bilateral slightly down-sloping and show a moderate-to-severe hearing loss across all frequencies. Representative fundus photographs of patient (b, c) and normal control (d). The proband clearly shown the “salt and pepper” pigment mottling pattern, severe RPE atrophic changes and the transparent in the macula. The vessels are very thin. Optical coherence tomography in the right eye (e)