Visual Acuity in Aniridia and WAGR Syndrome

References

• Landsend ECS, Lagali N, Utheim TP. Congenital aniridia – a comprehensive review of clinical features and therapeutic approaches. Surv Ophthalmol. 2021;66:1031–1050. doi:10.1016/j.survophthal.2021.02.011
   PubMed Web of Science ®Google Scholar
• Netland PA, Scott ML, Boyle JW, Lauderdale JD. Ocular and systemic findings in a survey of aniridia subjects. JAAPOS. 2011;15:562–566.
   PubMed Web of Science ®Google Scholar
• Netland PA. Management of glaucoma in congenital aniridia. In: Parekh M, Poli B, Ferrari S, Teofili C, Ponzin D, editors. Aniridia: Recent Developments in Scientific and Clinical Research. London: Springer; 2015:27–37.
   Google Scholar
• Bajwa A, Burstein E, Grainger RM, Netland PA. Anterior chamber angle in aniridia with and without glaucoma. Clin Ophthalmol. 2019;13:1469–1473. doi:10.2147/OPTH.S217930
   PubMed Web of Science ®Google Scholar
• Shiple D, Finklea B, Lauderdale JD, Netland PA. Keratopathy, cataract, and dry eye in a survey of aniridia subjects. Clin Ophthalmol. 2015;9:291–295.
   PubMed Web of Science ®Google Scholar
• Hingorani M, Hanson I, Van Heyningen V. Aniridia. Eur J Hum Genet. 2012;20:1011–1017. doi:10.1038/ejhg.2012.100
   PubMed Web of Science ®Google Scholar
• Bobilev AM, McDougal ME, Taylor WL, Geisert EE, Netland PA, Lauderdale JD. Assessment of PAX6 alleles in 66 families with aniridia. Clin Genet. 2016;1–9. doi:10.1111/cge.12708
   Web of Science ®Google Scholar
• Riccardi VM, Sujansky E, Smith AC, Francke U. Chromosomal imbalance in the aniridia-Wilms’ tumor association: 11p interstitial deletion. Pediatrics. 1978;61:604–610. doi:10.1542/peds.61.4.604
   PubMed Web of Science ®Google Scholar
• Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. WAGR syndrome: a clinical review of 54 cases. Pediatrics. 2005;116:984–988. doi:10.1542/peds.2004-0467
   PubMed Web of Science ®Google Scholar
• Duffy KA, Trout KL, Gunckle JM, Krantz SM, Morris J, Kalish JM. Results from the WAGR syndrome patient registry: characterization of WAGR spectrum and recommendations for care management. Front Pediatr. 2021;9:733018. doi:10.3389/fped.2021.733018
   PubMed Web of Science ®Google Scholar
• Daruich A, Robert MP, Leroy C, et al. Foveal hypoplasia grading in 95 cases of congenital aniridia: correlation to phenotype and PAX6 genotype. Am J Ophthalmol. 2022;237:122–129. doi:10.1016/j.ajo.2021.12.007
   PubMed Web of Science ®Google Scholar
• The Early Treatment Diabetic Retinopathy Study Research Group. Early photocoagulation for diabetic retinopathy. ETDRS Report Number 9. Ophthalmology. 1991;98:766–785. doi:10.1016/S0161-6420(13)38011-7
   PubMed Web of Science ®Google Scholar
• Rosenfeld PJ, Brown DM, Heier JS, et al. Ranibizumab for neovascular age-related macular degeneration. N Engl J Med. 2006;355:1419–1431. doi:10.1056/NEJMoa054481
   PubMed Web of Science ®Google Scholar
• World Health Organization World Report on Vision; 2019. Available from: https://www.who.int/publications/i/item/9789241516570. Accessed April 26, 2023.
   Google Scholar
• Saaddine JB, Venkat N, Vinicor KM. Vision loss: a public health problem? Ophthalmology. 2003;110:253–254. doi:10.1016/S0161-6420(02)01839-0
   PubMed Web of Science ®Google Scholar
• Disability Evaluation Under Social Security. Section 2: special Senses and Speech – adult. Available from: https://www.ssa.gov/disability/professionals/bluebook/2.00-SpecialSensesandSpeech-Adult.htm. Accessed April 26, 2023.
   Google Scholar
• Hyvarinen L, Nasanen R, Laurinen P. New visual acuity test for pre‐school children. Acta Ophthalmol. 1980;58:507–511. doi:10.1111/j.1755-3768.1980.tb08291.x
   PubMed Web of Science ®Google Scholar
• Holladay J. Proper method for calculating average visual acuity. J Refractive Surg. 1997;13:388–391. doi:10.3928/1081-597X-19970701-16
   PubMed Web of Science ®Google Scholar
• Hingorani M, Williamson KA, Moore AT, van Heyningen V. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Investig Ophthalmol Vis Sci. 2009;50:2581–2590. doi:10.1167/iovs.08-2827
   PubMed Web of Science ®Google Scholar
• Kit V, Cunha DL, Hagag AM, Moosajee M. Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia. JCI Insight. 2021;6:1–16. doi:10.1172/jci.insight.148406
   Web of Science ®Google Scholar
• Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, et al. Analysis of genotype-phenotype correlations in PAX6 -associated aniridia. J Med Genet. 2021;58:270–274. doi:10.1136/jmedgenet-2019-106172
   PubMed Web of Science ®Google Scholar
• Daruich A, Duncan M, Robert MP, et al. Congenital aniridia beyond black eyes: from phenotype and novel genetic mechanisms to innovative therapeutic approaches. Prog Retin Eye Res. 2022:101133. doi:10.1016/j.preteyeres.2022.101133
   PubMed Web of Science ®Google Scholar
• Cunha DL, Arno G, Cortono M, Moosajee M. The spectrum of PAX6 mutations and genotype-phenotype correlations in the eye. Genes. 2019;10:1050. doi:10.3390/genes10121050
   PubMed Web of Science ®Google Scholar
• Brown DM, Michels M, Kaiser PK, Heier JS, Sy JP, Ianchulev T. Ranibizumab versus verteporfin photodynamic therapy for neovascular age-related macular degeneration: two-year results of the ANCHOR study. Ophthalmology. 2006;116:57–65. doi:10.1016/j.ophtha.2008.10.018
   Google Scholar
• Alafaleq M, Sordello L, Bremond-Gignac D. Congenital aniridia and ocular motility. Am J Ophthalmol. 2023;247:145–151. doi:10.1016/j.ajo.2022.11.003
   PubMed Web of Science ®Google Scholar
• Eckert KA, Carter MJ, Lansingh VC, et al. A simple method for estimating the economic cost of productivity loss due to blindness and moderate to severe visual impairment. Ophthalmic Epidemiol. 2015;22:349–355. doi:10.3109/09286586.2015.1066394
   PubMed Web of Science ®Google Scholar
• Jacobson A, Mian SI, Bohnsack BL. Clinical outcomes and visual prognostic factors in congenital aniridia. BMC Ophthalmol. 2022;22:235. doi:10.1186/s12886-022-02460-5
   PubMed Web of Science ®Google Scholar