Figure 1.
Mutations Identified in the Present Study.
(A) The genome and protein structures of the long and short isoforms (isoforms a and b) of USH2A are presented. Schematic representation of the relative linear location of all seven USH2A mutations identified in the present study in context of the genome structure (upper) and protein structure (below) of isoform b. Domains of the usherin protein are indicated. (B) Evolutionary conservation of the P2762, G3320, R3719 and G4763 residues in the usherin protein of six species.
Figure 2.
Pedigree Structures of All Five Included Families.
Pedigrees of families ARRP01, ARRP02, ARRP03, ARRP04 and SU01 are demonstrated. Consanguineous marriage (double line) was revealed in families ARRP01, ARRP03 and ARRP04. Genotypes of USH2A variations for all include members from each individual family are shown with the specific variation detailed under the family pedigree. Arrows indicate probands in each family. Circles indicate females, and squares, males. Filled symbols indicate affected patients, and empty symbols, normal controls.
Table 1.
Clinical features of included patients.
Table 2.
Variations identified in each individual.
Table 3.
Characteristics of identified USH2A mutations.
Figure 3.
Fundus Appearances of Included Patients.
(A) Fundus photos of patient ARRP01-IV:3 demonstrate typical RP presentations, including attenuated vessels, waxy optic disk, and pigment deposits in the mid-peripheral of the retina. Macular degeneration was also identified in this patient. (B–C) Arterial attenuation, waxy of the optic disk, and bone spicular pigmentation are also revealed in the fundus of patients ARRP02-II:1 (B) and ARRP02-II:3 (C), while the macular regions are relatively preserved in both eyes of the two patients. (D) Attenuated arterials, waxy optic discs, and macular degenerations are found in the fundus of patient ARRP03-IV:3. No pigmentations are indicated. (E) Fundus of a control individual. (F–G) The optical coherence tomography (OCT) presentations of patients ARRP02-II:1 (E), ARRP02-II:2 (F) and ARRP02-II:3 (G) all revealed attenuated outer nuclear layer (ONL), retinal pigmented epithelium (RPE), and loss of outer/inner segments (IS/OS). (H) Scotopic and photopic ERG responses for patients ARRP02-II:1, II:2, and II:3 are diminished, while significantly reduced for patient ARRP03-IV:3. ERG presentations of a control individual are also demonstrated.