Skip to main content
Fig. 2 | BMC Medical Genetics

Fig. 2

From: Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome

Fig. 2

Clinical examination. a Pure tone audiogram showed bilateral downward-sloping moderate to severe hearing loss in one patient with Usher syndrome (F1-II-1); b Tympanometry examination demonstrated the normal functions of middle ear and eardrum in the F1-II-1 proband; c Fundoscopy of the F1-II-1 patient revealed symptoms typical of retinitis pigmentosa. d OCT of the F1-II-1 patient showed that retinal thickness was diminished

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us