{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:02:23Z","timestamp":1786114943532,"version":"build-2736575974"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T00:00:00Z","timestamp":1780358400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:00:00Z","timestamp":1785974400000},"content-version":"vor","delay-in-days":65,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100003945","name":"Link\u00f6ping University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003945","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Congenital aniridia is a rare but severe eye disease stemming from genetic variants in\n                      <jats:italic>PAX6<\/jats:italic>\n                      or related genes and affecting all eye structures, causing lifelong disability. Awareness of the disease is poor even among ophthalmology professionals, and how the ocular pathology impacts quality of life for patients is largely unknown. To improve healthcare for this group, a patient perspective is needed. It was therefore the aim of this study to survey subjects with congenital aniridia from across Europe to determine the impact of vision impairment on their daily lives.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A purpose-developed survey instrument was created and validated by multiple stakeholders and subsequently distributed to individuals and families with congenital aniridia across 15 European countries through European and national aniridia patient associations and the treating ophthalmologists. Survey responses were collected using an online application available in 13 languages or from printed copies. Responses were translated into English and compiled for descriptive and quantitative statistical comparisons.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of 295 survey respondents (age range 0\u201379, 58.3% female), photophobia was the most prevalent symptom experienced daily by 83%, followed by 42% experiencing daily dryness, 34% reporting unstable vision daily and 20% experiencing daily ocular pain. 51% of those aged 19 years or younger experienced ocular pain once or more per week, increasing to 61% in adults aged 20 years or older. 93% used a smartphone, of which 55% did not require specialized assistive technology for its use. Most respondents had difficulty recognizing faces, could not read facial expressions, experienced difficulties at school or in the workplace and in social settings, reporting bullying, misunderstandings, social exclusion and isolation. 59% required help at home and 64% outside the home to accomplish daily living tasks, with children requiring help more frequently than adults.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Congenital aniridia is characterized by multiple ocular symptoms experienced frequently, affecting daily living in all age groups. Areas to be addressed include provision of adequate symptom relief and improving inclusion, independence, and quality of life for this rare patient group, particularly for children.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04419-x","type":"journal-article","created":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T07:46:09Z","timestamp":1780386369000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The impact of vision impairment on living with congenital aniridia: a pan-European survey study"],"prefix":"10.1186","volume":"21","author":[{"given":"Ren\u00e1ta","family":"Schoffer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Grupcheva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Kildsgaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Poli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"K\u00e4smann-Kellner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N\u00f3ra","family":"Szentm\u00e1ry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Maka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1ria","family":"Csidey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annam\u00e1ria","family":"N\u00e1ray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabian N.","family":"Fries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zamira","family":"Hoxha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Stachon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Figueiredo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesper","family":"Hjortdal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vito","family":"Romano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claus","family":"Cursiefen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galina","family":"Genning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berthold","family":"Seitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandra","family":"Daruich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Bremond-Gignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Sanchez de","family":"Vega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1079-4361","authenticated-orcid":false,"given":"Neil","family":"Lagali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,2]]},"reference":[{"issue":"6","key":"4419_CR1","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1016\/j.survophthal.2021.02.011","volume":"66","author":"ECS Landsend","year":"2021","unstructured":"Landsend ECS, Lagali N, Utheim TP. Congenital aniridia - A comprehensive review of clinical features and therapeutic approaches. Surv Ophthalmol. 2021;66(6):1031\u201350.","journal-title":"Surv Ophthalmol"},{"key":"4419_CR2","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.jtos.2021.09.001","volume":"22","author":"L Latta","year":"2021","unstructured":"Latta L, Figueiredo FC, Ashery-Padan R, Collinson JM, Daniels J, Ferrari S, et al. Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions. Ocul Surf. 2021;22:245\u201366.","journal-title":"Ocul Surf"},{"key":"4419_CR3","doi-asserted-by":"publisher","first-page":"101133","DOI":"10.1016\/j.preteyeres.2022.101133","volume":"95","author":"A Daruich","year":"2023","unstructured":"Daruich A, Duncan M, Robert MP, Lagali N, Semina EV, Aberdam D, et al. Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches. Prog Retin Eye Res. 2023;95:101133.","journal-title":"Prog Retin Eye Res"},{"issue":"2","key":"4419_CR4","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/j.ophtha.2019.09.034","volume":"127","author":"N Lagali","year":"2020","unstructured":"Lagali N, Wowra B, Fries FN, Latta L, Moslemani K, Utheim TP, et al. PAX6 Mutational Status Determines Aniridia-Associated Keratopathy Phenotype. Ophthalmology. 2020;127(2):273\u20135.","journal-title":"Ophthalmology"},{"key":"4419_CR5","unstructured":"Tripathy K, Salini B, Aniridia. StatPearls. Treasure Island (FL): StatPearls Publishing Copyright \u00a9 2024. StatPearls Publishing LLC.; 2024."},{"issue":"4","key":"4419_CR6","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1542\/peds.2004-0467","volume":"116","author":"BV Fischbach","year":"2005","unstructured":"Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. WAGR Syndrome: A Clinical Review of 54 Cases. Pediatrics. 2005;116(4):984\u20138.","journal-title":"Pediatrics"},{"issue":"4","key":"4419_CR7","doi-asserted-by":"publisher","first-page":"e0153757","DOI":"10.1371\/journal.pone.0153757","volume":"11","author":"M Ansari","year":"2016","unstructured":"Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, et al. Genetic Analysis of \u2018PAX6-Negative\u2019 Individuals with Aniridia or Gillespie Syndrome. PLoS ONE. 2016;11(4):e0153757\u2013e.","journal-title":"PLoS ONE"},{"key":"4419_CR8","first-page":"2074","volume":"15","author":"H Abouzeid","year":"2009","unstructured":"Abouzeid H, Youssef MA, ElShakankiri N, Hauser P, Munier FL, Schorderet DF. PAX6 aniridia and interhemispheric brain anomalies. Mol Vis. 2009;15:2074\u201383.","journal-title":"Mol Vis"},{"issue":"4","key":"4419_CR9","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1007\/s00439-008-0484-x","volume":"123","author":"LK Davis","year":"2008","unstructured":"Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, et al. Pax6 3\u2019 deletion results in aniridia, autism and mental retardation. Hum Genet. 2008;123(4):371\u20138.","journal-title":"Hum Genet"},{"issue":"5","key":"4419_CR10","doi-asserted-by":"publisher","first-page":"940","DOI":"10.1016\/j.survophthal.2023.04.003","volume":"68","author":"AJH van Velthoven","year":"2023","unstructured":"van Velthoven AJH, Utheim TP, Notara M, Bremond-Gignac D, Figueiredo FC, Skottman H, et al. Future directions in managing aniridia-associated keratopathy. Surv Ophthalmol. 2023;68(5):940\u201356.","journal-title":"Surv Ophthalmol"},{"issue":"5","key":"4419_CR11","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1001\/jamaophthalmol.2021.0146","volume":"139","author":"L Assi","year":"2021","unstructured":"Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, et al. A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews. JAMA Ophthalmol. 2021;139(5):526\u201341.","journal-title":"JAMA Ophthalmol"},{"issue":"7","key":"4419_CR12","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1111\/aos.15676","volume":"101","author":"P Purola","year":"2023","unstructured":"Purola P, Koskinen S, Uusitalo H. Impact of vision on generic health-related quality of life \u2013 A systematic review. Acta Ophthalmol. 2023;101(7):717\u201328.","journal-title":"Acta Ophthalmol"},{"issue":"6","key":"4419_CR13","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1016\/j.jaapos.2011.07.009","volume":"15","author":"PA Netland","year":"2011","unstructured":"Netland PA, Scott ML, Boyle JWt, Lauderdale JD. Ocular and systemic findings in a survey of aniridia subjects. J AAPOS. 2011;15(6):562\u20136.","journal-title":"J AAPOS"},{"key":"4419_CR14","first-page":"291","volume":"9","author":"D Shiple","year":"2015","unstructured":"Shiple D, Finklea B, Lauderdale JD, Netland PA. Keratopathy, cataract, and dry eye in a survey of aniridia subjects. Clin Ophthalmol. 2015;9:291\u20135.","journal-title":"Clin Ophthalmol"},{"issue":"7","key":"4419_CR15","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1111\/j.1755-3768.2008.01309.x","volume":"86","author":"U Ed\u00e9n","year":"2008","unstructured":"Ed\u00e9n U, Iggman D, Riise R, Tornqvist K. Epidemiology of aniridia in Sweden and Norway. Acta Ophthalmol. 2008;86(7):727\u20139.","journal-title":"Acta Ophthalmol"},{"issue":"9","key":"4419_CR16","doi-asserted-by":"publisher","first-page":"1245","DOI":"10.1097\/ACM.0000000000000388","volume":"89","author":"BC O\u2019Brien","year":"2014","unstructured":"O\u2019Brien BC, Harris IB, Beckman TJ, Reed DA, Cook DA. Standards for reporting qualitative research: a synthesis of recommendations. Acad Med. 2014;89(9):1245\u201351.","journal-title":"Acad Med"},{"issue":"1","key":"4419_CR17","doi-asserted-by":"publisher","first-page":"2263534","DOI":"10.1080\/21642850.2023.2263534","volume":"11","author":"S Sigurdardottir","year":"2023","unstructured":"Sigurdardottir S, von der Lippe C, Media L, Ullmann Miller J, Landsend ECS. Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study. Health Psychol Behav Med. 2023;11(1):2263534.","journal-title":"Health Psychol Behav Med"},{"key":"4419_CR18","doi-asserted-by":"publisher","first-page":"251584142110195","DOI":"10.1177\/25158414211019513","volume":"13","author":"MO Ugalahi","year":"2021","unstructured":"Ugalahi MO, Ibukun FA, Olusanya BA, Baiyeroju AM. Congenital aniridia: clinical profile of children seen at the University College Hospital, Ibadan, South-West Nigeria. Therapeutic Adv Ophthalmol. 2021;13:25158414211019513.","journal-title":"Therapeutic Adv Ophthalmol"},{"issue":"2","key":"4419_CR19","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1586\/17469899.2016.1152182","volume":"11","author":"M Samant","year":"2016","unstructured":"Samant M, Chauhan BK, Lathrop KL, Nischal KK. Congenital aniridia: etiology, manifestations and management. Expert Rev Ophthalmol. 2016;11(2):135\u201344.","journal-title":"Expert Rev Ophthalmol"},{"key":"4419_CR20","doi-asserted-by":"publisher","first-page":"205520762312047","DOI":"10.1177\/20552076231204746","volume":"9","author":"PJ Wright","year":"2023","unstructured":"Wright PJ, Raynor PA, Bowers D, Combs EM, Corbett CF, Hardy H, et al. Leveraging digital technology for social connectedness among adults with chronic conditions: A systematic review. Digit Health. 2023;9:20552076231204746.","journal-title":"Digit Health"},{"key":"4419_CR21","unstructured":"Haase M, Bosse M, Sackmann S, Meyer G. IT skills of young and older people: a qualitative study. Int J Human\u2013Computer Interact. 2024:1\u201311."},{"issue":"1","key":"4419_CR22","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1136\/bjo-2021-320774","volume":"108","author":"FN Fries","year":"2023","unstructured":"Fries FN, Moslemani K, Utheim TP, Seitz B, K\u00e4smann-Kellner B, Lagali NS. Early ocular surface and tear film status in congenital aniridia indicates a supportive treatment window. Br J Ophthalmol. 2023;108(1):30\u20136.","journal-title":"Br J Ophthalmol"},{"issue":"1","key":"4419_CR23","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.optom.2022.03.003","volume":"16","author":"S Klauke","year":"2023","unstructured":"Klauke S, Sondocie C, Fine I. The impact of low vision on social function: The potential importance of lost visual social cues. J Optom. 2023;16(1):3\u201311.","journal-title":"J Optom"},{"issue":"4","key":"4419_CR24","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1037\/rep0000391","volume":"66","author":"S Partow","year":"2021","unstructured":"Partow S, Cook R, McDonald R. Coping with stigmatization and discrimination related to blindness and low vision. Rehabil Psychol. 2021;66(4):576\u201388.","journal-title":"Rehabil Psychol"},{"issue":"3","key":"4419_CR25","first-page":"290","volume":"17","author":"K Patel","year":"2022","unstructured":"Patel K, Parmar B. Assistive device using computer vision and image processing for visually impaired; review and current status. Disabil Rehabilitation: Assist Technol. 2022;17(3):290\u20137.","journal-title":"Disabil Rehabilitation: Assist Technol"},{"key":"4419_CR26","doi-asserted-by":"crossref","unstructured":"Perrault MA, Lauer G, Voss S, Seitz B, K\u00e4smann-Kellner B. Visual impairment and low vision aids-a comparison between children and adults. J Pers Med. 2023;13(11).","DOI":"10.3390\/jpm13111608"},{"issue":"1","key":"4419_CR27","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1111\/jsr.12345","volume":"25","author":"AE Hanish","year":"2016","unstructured":"Hanish AE, Butman JA, Thomas F, Yao J, Han JC. Pineal hypoplasia, reduced melatonin and sleep disturbance in patients with PAX6 haploinsufficiency. J Sleep Res. 2016;25(1):16\u201322.","journal-title":"J Sleep Res"},{"issue":"5","key":"4419_CR28","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1001\/archpedi.161.5.463","volume":"161","author":"DE Bamiou","year":"2007","unstructured":"Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, et al. Auditory Interhemispheric Transfer Deficits, Hearing Difficulties, and Brain Magnetic Resonance Imaging Abnormalities in Children With Congenital Aniridia Due to PAX6 Mutations. Arch Pediatr Adolesc Med. 2007;161(5):463\u20139.","journal-title":"Arch Pediatr Adolesc Med"},{"issue":"19","key":"4419_CR29","doi-asserted-by":"publisher","first-page":"3434","DOI":"10.1093\/hmg\/ddy255","volume":"27","author":"A Buckle","year":"2018","unstructured":"Buckle A, Nozawa RS, Kleinjan DA, Gilbert N. Functional characteristics of novel pancreatic Pax6 regulatory elements. Hum Mol Genet. 2018;27(19):3434\u201348.","journal-title":"Hum Mol Genet"},{"key":"4419_CR30","unstructured":"Moosajee M, Hingorani M, Moore TA. PAX6-related aniridia. Gene Reviews\u00ae - NCBI Bookshelf; 2018."},{"issue":"3","key":"4419_CR31","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1055\/a-2065-8405","volume":"241","author":"FN Fries","year":"2024","unstructured":"Fries FN, N\u00e1ray A, Munteanu C, Stachon T, Lagali N, Seitz B, et al. A Cross-sectional Analysis of 556 Eyes Entering the Homburg Aniridia Centre. Klin Monbl Augenheilkd. 2024;241(3):275\u201382.","journal-title":"Klin Monbl Augenheilkd"},{"issue":"15","key":"4419_CR32","doi-asserted-by":"publisher","first-page":"1897","DOI":"10.1001\/jama.286.15.1897","volume":"286","author":"R Charon","year":"2001","unstructured":"Charon R, Narrative Medicine. A Model for Empathy, Reflection, Profession, and Trust. JAMA. 2001;286(15):1897\u2013902.","journal-title":"JAMA"},{"key":"4419_CR33","doi-asserted-by":"crossref","unstructured":"Ancona C, Marini MG, Minetti F, Csidey M, Maka E, Stachon T, et al. Exploring the human experience of congenital aniridia: a narrative medicine approach. Eur J Ophthalmol. 2025:11206721251407851.","DOI":"10.1177\/11206721251407851"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-026-04419-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04419-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04419-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T23:25:30Z","timestamp":1785972330000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13023-026-04419-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,2]]},"references-count":33,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4419"],"URL":"https:\/\/doi.org\/10.1186\/s13023-026-04419-x","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,2]]},"assertion":[{"value":"30 September 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The surveys and study were approved by the Research Ethics Committee of the Medical University of Varna, Bulgaria (Ethical permit no. N 99\/14.01.2022\u0433). All subjects gave written informed consent prior to participation, and the study followed the tenets of the Declaration of Helsinki.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All participants gave written consent to share their responses to the survey, while responses were anonymous and only identifiable by country, sex, and age category.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"265"}}