Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome

References

• Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis 1983;36(8):595–603.
   PubMedGoogle Scholar
• Espinos C, Millan JM, Beneyto M, et al. Epidemiology of Usher syndrome in Valencia and Spain. Community Genet 1998;1(4):223–228.
   PubMedGoogle Scholar
• Hope CI, Bundey S, Proops D, et al. Usher syndrome in the city of Birmingham––prevalence and clinical classification. Br J Ophthalmol 1997;81(1):46–53.
   PubMed Web of Science ®Google Scholar
• Vernon M. Usher’s syndrome––deafness and progressive blindness. Clinical cases, prevention, theory and literature survey. J Chronic Dis. 1969;22(3):133–151.
   Google Scholar
• Boughman JA, Fishman GA. A genetic analysis of retinitis pigmentosa. Br J Ophthalmol 1983;67(7):449–454.
   PubMed Web of Science ®Google Scholar
• Smith RJ, Berlin CI, Hejtmancik JF, et al. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet. 1994;50(1):32–38.
   PubMed Web of Science ®Google Scholar
• Hagiwara A, Yamamoto S, Ogata K, et al. Macular abnormalities in patients with retinitis pigmentosa: prevalence on OCT examination and outcomes of vitreoretinal surgery. Acta Ophthalmol 2011;89(2):122–125.
   Web of Science ®Google Scholar
• Fishman GA, Fishman M, Maggiano J. Macular lesions associated with retinitis pigmentosa. Arch Ophthalmol 1977;95(5):798–803.
   PubMedGoogle Scholar
• Hajali M, Fishman GA. The prevalence of cystoid macular oedema on optical coherence tomography in retinitis pigmentosa patients without cystic changes on fundus examination. Eye (Lond) 2009;23(4):915–919.
   PubMed Web of Science ®Google Scholar
• Testa F, Rossi S, Colucci R, et al. Macular abnormalities in Italian patients with retinitis pigmentosa. Br J Ophthalmol 2014;98(7):946–950.
   PubMed Web of Science ®Google Scholar
• Lingao MD, Ganesh A, Karthikeyan AS, et al. Macular cystoid spaces in patients with retinal dystrophy. Ophthalmic Genet 2016;37(4):377–383.
   Google Scholar
• Kim C, Chung H, Yu HG. Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa. Ophthalmic Genet 2012;33(2):96–99.
   Google Scholar
• Salvatore S, Genead MA, Fishman GA. The prevalence of macular cysts in patients with clinical cone-rod dystrophy determined by spectral-domain optical coherence tomography. Ophthalmic Genet 2014;35(1):47–50.
   PubMed Web of Science ®Google Scholar
• Walia S, Fishman GA, Hajali M. Prevalence of cystic macular lesions in patients with Usher II syndrome. Eye (Lond) 2009;23(5):1206–1209.
   PubMed Web of Science ®Google Scholar
• Schwartz SB, Aleman TS, Cideciyan AV, et al. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci 2005;46(2):734–743.
   PubMed Web of Science ®Google Scholar
• Fakin A, Jarc-Vidmar M, Glavač D, et al. Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2. Vision Res 2012;75:60–70.
   PubMed Web of Science ®Google Scholar
• Bonnet C, Grati M, Marlin S, et al. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis 2011;6(1):21.
   PubMed Web of Science ®Google Scholar
• Tranos PG, Wickremasinghe SS, Stangos NT, et al. Macular edema. Surv Ophthalmol 2004;49(5):470–490.
   PubMed Web of Science ®Google Scholar
• Sliesoraityte I, Peto T, Mohand-Said S, et al. Novel grading system for quantification of cystic macular lesions in Usher syndrome. Orphanet J Rare Dis 2015;10(1):157.
   PubMed Web of Science ®Google Scholar
• Koizumi H, Spaide RF, Fisher YL, et al. Three-dimensional evaluation of vitreomacular traction and epiretinal membrane using spectral-domain optical coherence tomography. Am J Ophthalmol 2008;145(3):509–517.
   PubMed Web of Science ®Google Scholar
• Chen J, Lee L. Clinical applications and new developments of optical coherence tomography: an evidence-based review. Clin Exp Optom 2007;90(5):317–335.
   PubMed Web of Science ®Google Scholar
• Hee MR, Puliafito CA, Wong C, et al. Optical coherence tomography of macular holes. Ophthalmology 1995;102(5):748–756.
   PubMed Web of Science ®Google Scholar
• Fishman GA, Anderson RJ, Lam BL, et al. Prevalence of foveal lesions in type 1 and type 2 Usher’s syndrome. Arch Ophthalmol 1995;113(6):770–773.
   PubMedGoogle Scholar
• Tsilou ET, Rubin BI, Caruso RC, et al. Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types? Acta Ophthalmol Scand 2002;80(2):196–201.
   PubMedGoogle Scholar
• Stanga PE, Downes SM, Ahuja RM, et al. Comparison of optical coherence tomography and fluorescein angiography in assessing macular edema in retinal dystrophies: preliminary results. Int Ophthalmol 2001;23(4–6):321–325.
   PubMedGoogle Scholar
• Liew G, Moore AT, Webster AR, et al. Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa. Invest Ophthalmol Vis Sci 2015;56(3):1531–1536.
   PubMed Web of Science ®Google Scholar
• Genead MA, Fishman GA. Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with retinitis pigmentosa and usher syndrome. Arch Ophthalmol 2010;128(9):1146–1150.
   PubMedGoogle Scholar
• Stalmans P, Benz MS, Gandorfer A, et al. Enzymatic vitreolysis with ocriplasmin for vitreomacular traction and macular holes. N Engl J Med 2012;367(7):606–615.
   PubMed Web of Science ®Google Scholar
• Rossi S, Orrico A, Melillo P, et al. Ocriplasmin use in a selected case with preserved visual acuity. BMC Ophthalmol 2015;15:146.
   PubMed Web of Science ®Google Scholar
• Rossi S, Testa F, Melillo P, et al. Functional improvement assessed by multifocal electroretinogram after Ocriplasmin treatment for vitreomacular traction. BMC Ophthalmol 2016;16:110.
   PubMed Web of Science ®Google Scholar