Retinal phenotypes of patients with mutations in Usher genes.

<p><b>A</b>, Composite color fundus photograph of the left eye of a four-year-old girl (DF103-III-2) showing diffuse narrowing of the retinal arteries and hyperpigmentation in a bone-spicule configuration in the midperipheral retina. <b>B</b>, B-scan OCT imaging of the same eye showing a mild foveal atrophy (central macular thickness = 160 micrometers). <b>C</b>, Color fundus photograph of the posterior pole of the right eye of a six-year-old boy (DF103-III-1) with early stage retinitis pigmentosa shows no obvious abnormalities which may explain the misdiagnosis of the disease in some cases. <b>D</b>, Color fundus photograph of the peripheral retina showing a “salt and pepper" appearance without the classical bone-spicule pigmentation. <b>E</b>, The fovea has a normal thickness on optical coherence tomography (180 micrometers).</p

Pedigrees of the four Tunisian patients analyzed by whole exome sequencing.

<p>Squares and circles denote males and females, respectively. Filled symbols indicate deaf individuals. Arrows indicate the individuals analyzed by WES.</p