Volume 123, Issue 5, Pages 1151-1160 (May 2016) Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa  Laurence H.M. Pierrache, MD, Bas P. Hartel, MD, Erwin van Wijk, PhD, Magda A. Meester-Smoor, PhD, Frans P.M. Cremers, PhD, Elfride de Baere, MD, PhD, Julie de Zaeytijd, MD, Mary J. van Schooneveld, MD, PhD, Cor W.R.J. Cremers, MD, PhD, Gislin Dagnelie, PhD, Carel B. Hoyng, MD, PhD, Arthur A. Bergen, PhD, Bart P. Leroy, MD, PhD, Ronald J.E. Pennings, MD, PhD, L. Ingeborgh van den Born, MD, PhD, Caroline C.W. Klaver, MD, PhD  Ophthalmology  Volume 123, Issue 5, Pages 1151-1160 (May 2016) DOI: 10.1016/j.ophtha.2016.01.021 Copyright © 2016 American Academy of Ophthalmology Terms and Conditions

Figure 1 Flow chart of subjects included in the study. Patients with biallelic pathogenic mutations were defined as solved, and patients with only 1 known pathogenic mutation were considered unsolved. RP = retinitis pigmentosa. Ophthalmology 2016 123, 1151-1160DOI: (10.1016/j.ophtha.2016.01.021) Copyright © 2016 American Academy of Ophthalmology Terms and Conditions

Figure 2 Graphs showing cumulative incidence (%) of low vision based on (A) visual acuity of less than 0.3 and (B) GVF of less than 20 as a function of age stratified for Usher syndrome type IIa and nonsyndromic retinitis pigmentosa (RP). The cumulative incidence of low vision at 0, 20, 40, 60, and 80 years of age is indicated in the grey box below the graph. Red = Usher syndrome type IIa; black = nonsyndromic RP. Ophthalmology 2016 123, 1151-1160DOI: (10.1016/j.ophtha.2016.01.021) Copyright © 2016 American Academy of Ophthalmology Terms and Conditions

Figure 3 Graphs showing cumulative incidence (%) of legal blindness based on (A) visual acuity of less than 0.05 and (B) GVF of less than 10 as a function of age stratified for Usher syndrome type IIa and nonsyndromic retinitis pigmentosa (RP). The cumulative incidence of legal blindness at 0, 20, 40, 60, and 80 years of age is indicated in the grey box below the graph. Red line = Usher syndrome type IIa; black = nonsyndromic RP. Ophthalmology 2016 123, 1151-1160DOI: (10.1016/j.ophtha.2016.01.021) Copyright © 2016 American Academy of Ophthalmology Terms and Conditions

Figure 4 Graphs showing the relationship between mean log retinal area and age. Solid line = mixed model estimation; dashed line = confidence interval. RP = retinitis pigmentosa. Ophthalmology 2016 123, 1151-1160DOI: (10.1016/j.ophtha.2016.01.021) Copyright © 2016 American Academy of Ophthalmology Terms and Conditions

Figure 5 Schematic representation of the usherin protein and localization of mutations. Mutations in the first column were found only in participants with Usher syndrome type IIa. Mutations in the last column were found only in nonsyndromic retinitis pigmentosa (RP) participants. Mutations in the middle column were present in both phenotype groups. Ophthalmology 2016 123, 1151-1160DOI: (10.1016/j.ophtha.2016.01.021) Copyright © 2016 American Academy of Ophthalmology Terms and Conditions