{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:50:56Z","timestamp":1787028656784,"version":"build-2736575974"},"reference-count":53,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T00:00:00Z","timestamp":1746489600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Objectives: To evaluate the patient-reported impact of retinitis pigmentosa (RP) in a large patient cohort to identify relevant disease-related disadvantages as key aspects for the improvement of ophthalmic and social care. Methods: Consecutive patients with molecularly confirmed RP older than 18 years of age were identified in two tertiary care centers in Germany. Patients were contacted to participate in an anonymized patient query regarding the impact of RP on their vocational training, professional career, and social, familial, and personal life, as well as their experience with ophthalmologic care. Results: Out of 241 contacted patients, 162 responded (67.2%; 52.5% female, 67.3% younger than 50 years of age). While the impact of RP on vocational training was limited, professional careers were frequently disrupted with early retirement rates of 39.8% (\u226540 years of age) to 50% (\u226550 years of age). Most respondents felt restricted in their participation in public life (66.3%). One-fifth complained about financial restrictions; however, one-third of this number did not obtain financial help. A negative impact on familial life (21.4%) was less frequently reported compared to personal impairments, especially anxiety (74.5%) and depression (24.2%). Most respondents considered their ophthalmic care as adequate; however, a delayed diagnosis (\u2265two years: 28.6%) and initial misdiagnosis (24.0%) were frequent. Insufficient psychological support was the major complaint about professional care. Conclusions: RP affects the lives of patients in multiple aspects. Ophthalmic and social care providers should focus on the acceleration of the diagnostic process, as well as easy access to financial assistance and psychological support, as key areas for improvement. Improvements in these areas are expected to reduce challenges for patients. They should have an impact on rehabilitation, participation in public life, and quality of life.<\/jats:p>","DOI":"10.3390\/jcm14093229","type":"journal-article","created":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T11:38:06Z","timestamp":1746531486000},"page":"3229","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa"],"prefix":"10.3390","volume":"14","author":[{"given":"Nina","family":"Zehe-Lindau","sequence":"first","affiliation":[{"name":"Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik- und Therapiezentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Lindau","sequence":"additional","affiliation":[{"name":"Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik- und Therapiezentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany"},{"name":"RetinaScience, Postfach 301212, 53192 Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1508-0731","authenticated-orcid":false,"given":"Heidi","family":"St\u00f6hr","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8808-7723","authenticated-orcid":false,"given":"Bernhard H. F.","family":"Weber","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"},{"name":"Institute of Clinical Human Genetics, University Hospital Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"Spital","sequence":"additional","affiliation":[{"name":"Augenzentrum am St. Franziskus-Hospital M\u00fcnster, Hohenzollernring 74, 48145 M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5221-4631","authenticated-orcid":false,"given":"Ulrich","family":"Kellner","sequence":"additional","affiliation":[{"name":"Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augen\u00e4rztliches Diagnostik- und Therapiezentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany"},{"name":"RetinaScience, Postfach 301212, 53192 Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e016888","DOI":"10.1136\/bmjopen-2017-016888","article-title":"Is there evidence that the yearly numbers of children newly certified with sight impairment in England and Wales has increased between 1999\/2000 and 2014\/2015? A cross-sectional study","volume":"7","author":"Bunce","year":"2017","journal-title":"BMJ Open"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1080\/13816810.2021.1913610","article-title":"Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia","volume":"42","author":"Mukhtar","year":"2021","journal-title":"Ophthalmic Genet."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Glatz, M., Riedl, R., Glatz, W., Schneider, M., Wedrich, A., Bolz, M., and Strauss, R.W. (2022). Blindness and visual impairment in Central Europe. PLoS ONE, 17.","DOI":"10.1371\/journal.pone.0261897"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1038\/s41433-021-01743-3","article-title":"Childhood visual impairment and blindness: 5-year data from a tertiary low vision center in Israel","volume":"36","author":"Yahalom","year":"2022","journal-title":"Eye"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"2559","DOI":"10.1038\/s41433-022-02374-y","article-title":"Childhood blindness incidence and aetiologies trends in Israel 2014\u20132020: What should we focus on?","volume":"37","author":"Israeli","year":"2023","journal-title":"Eye"},{"key":"ref_6","first-page":"198","article-title":"Decline in Blindness in Persons Up to Age 65 and the Associated Lost Years of Gainful Employment","volume":"121","author":"Claessen","year":"2024","journal-title":"Dtsch. Arztebl. Int."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1514","DOI":"10.1002\/humu.24064","article-title":"Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period","volume":"41","author":"Weisschuh","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Nguyen, X.T., Moekotte, L., Plomp, A.S., Bergen, A.A., van Genderen, M.M., and Boon, C.J.F. (2023). Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24087481"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1080\/13816810.2022.2089359","article-title":"Childhood-onset retinal dystrophies reduces life-time income by one third\u2014An individual based socio-economic analysis","volume":"43","author":"Kessel","year":"2022","journal-title":"Ophthalmic Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1111\/aos.12467","article-title":"Socio-economic characteristics of patients with generalized retinal dystrophy in Denmark","volume":"93","author":"Bertelsen","year":"2015","journal-title":"Acta Ophthalmol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s41687-023-00610-x","article-title":"Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: Content validation of the ViSIO-PRO and ViSIO-ObsRO measures","volume":"7","author":"Kay","year":"2023","journal-title":"J. Patient Rep. Outcomes"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Kessel, L., Kjellberg, J., Ibsen, R., Rasmussen, A., Nissen, K.R., and la Cour, M. (2022). Longitudinal analysis of health care costs in patients with childhood onset inherited retinal dystrophies compared to healthy controls. BMC Ophthalmol., 22.","DOI":"10.1186\/s12886-022-02708-0"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1007\/s12325-023-02446-9","article-title":"Quality of Life and Economic Impacts of Retinitis Pigmentosa on Japanese Patients: A Non-interventional Cross-sectional Study","volume":"40","author":"Watanabe","year":"2023","journal-title":"Adv. Ther."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"707","DOI":"10.2147\/OPTH.S241928","article-title":"The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective","volume":"14","author":"Galvin","year":"2020","journal-title":"Clin. Ophthalmol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1001\/jamaophthalmol.2024.3641","article-title":"Incidence and Risk of Depressive Disorder in Patients With Retinitis Pigmentosa","volume":"142","author":"Kim","year":"2024","journal-title":"JAMA Ophthalmol."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Watanabe, K., Hiratsuka, Y., Yamamoto, S., and Murakami, A. (2023). Economic Impacts and Quality of Life for Caregivers of Patients with Retinitis Pigmentosa: A Cross-Sectional Japanese Study. Healthcare, 11.","DOI":"10.3390\/healthcare11070988"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1007\/s00347-022-01602-w","article-title":"Diagnosis of inherited retinal dystrophies. Relevance of molecular genetic testing from the patient\u2019s perspective","volume":"119","author":"Kellner","year":"2022","journal-title":"Ophthalmologe"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1080\/13816810.2023.2179074","article-title":"The validation of inherited retinal disease-specific patient-reported outcome measures in adolescent patients","volume":"44","author":"Selvan","year":"2023","journal-title":"Ophthalmic Genet."},{"key":"ref_19","first-page":"250","article-title":"Wide-field optical coherence tomography in ABCA4-associated inherited retinal dystrophies","volume":"5","author":"Saleh","year":"2021","journal-title":"J. Trans. Genet. Genom."},{"key":"ref_20","first-page":"11","article-title":"The value of genetic testing in pediatric and adult ophthalmology","volume":"37","author":"Kellner","year":"2025","journal-title":"Med. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1080\/13816810.2024.2357305","article-title":"Clinical and molecular findings in children with retinitis pigmentosa","volume":"45","author":"Li","year":"2024","journal-title":"Ophthalmic Genet."},{"key":"ref_22","first-page":"159","article-title":"Do adolescents with impaired vision have different intentions and ambitions for their education, career and social outcomes compared to their peers? Findings from the Millennium Cohort Study","volume":"108","author":"Rahi","year":"2022","journal-title":"Br. J. Ophthalmol."},{"key":"ref_23","first-page":"348","article-title":"Quality of Life Analysis in Patients with Retinitis Pigmentosa","volume":"67","author":"Humphries","year":"2024","journal-title":"Ophthalmic Res."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1136\/bjophthalmol-2021-319655","article-title":"Relationship between vision impairment and employment","volume":"107","author":"Chai","year":"2023","journal-title":"Br. J. Ophthalmol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"e736","DOI":"10.1111\/aos.16634","article-title":"EQ-5D-5L health utility scores in Australian adults with inherited retinal diseases: A cross-sectional survey","volume":"102","author":"McGuinness","year":"2024","journal-title":"Acta Ophthalmol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1038\/s41433-024-03546-8","article-title":"The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): Findings from the EXPLORE XLRP-2 study","volume":"39","author":"Parmeggiani","year":"2025","journal-title":"Eye"},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Li, J.J., Kim, J.J., and Nausheen, F. (2023). Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis. Nutrients, 15.","DOI":"10.3390\/nu15112551"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"e095986","DOI":"10.1136\/bmjopen-2024-095986","article-title":"Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: A cross-sectional study in Norway","volume":"15","author":"Rustad","year":"2025","journal-title":"BMJ Open"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1167\/tvst.13.7.18","article-title":"Differences in Objective Physical Activity Between Children with Visual Impairment and Those with Normal Sight","volume":"13","author":"Adhikari","year":"2024","journal-title":"Transl. Vis. Sci. Technol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1136\/bjophthalmol-2018-313089","article-title":"Estimation of impact of RPE65-mediated inherited retinal disease on quality of life and the potential benefits of gene therapy","volume":"103","author":"Lloyd","year":"2019","journal-title":"Br. J. Ophthalmol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1080\/13816810.2022.2144901","article-title":"Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases","volume":"44","author":"Popova","year":"2023","journal-title":"Ophthalmic Genet."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Sainohira, M., Yamashita, T., Terasaki, H., Sonoda, S., Miyata, K., Murakami, Y., Ikeda, Y., Morimoto, T., Endo, T., and Fujikado, T. (2018). Quantitative analyses of factors related to anxiety and depression in patients with retinitis pigmentosa. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0195983"},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Mateos-Olivares, M., Pastor-Idoate, S., Martin-Vallejo, J., Garcia-Vazquez, C., Pastor, J.C., Usategui-Martin, R., and Sobas, E.M. (2024). Stress and sleep deprivation-related biomarkers in saliva in patients with retinitis pigmentosa. PLoS ONE, 19.","DOI":"10.1371\/journal.pone.0304261"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.ajo.2020.12.001","article-title":"The Michigan Vision-Related Anxiety Questionnaire: A Psychosocial Outcomes Measure for Inherited Retinal Degenerations","volume":"225","author":"Lacy","year":"2021","journal-title":"Am. J. Ophthalmol."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Gouveia, N., Chukwunalu, O., Oliveira, C., Alves, C.H., Silva, R., Murta, J., and Marques, J.P. (2024). Exploring self-reported visual function and vision-related anxiety in patients with RPGR-associated retinal degeneration. Sci. Rep., 14.","DOI":"10.1038\/s41598-024-66170-2"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.ajo.2017.02.016","article-title":"Impact of Retinitis Pigmentosa on Quality of Life, Mental Health, and Employment Among Young Adults","volume":"177","author":"Cariou","year":"2017","journal-title":"Am. J. Ophthalmol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"205","DOI":"10.4274\/tjo.galenos.2024.77489","article-title":"Emotional State Evaluation of Retinitis Pigmentosa Patients with the Beck Depression Inventory","volume":"54","author":"Oner","year":"2024","journal-title":"Turk. J. Ophthalmol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1016\/j.ajo.2021.03.062","article-title":"Incremental Economic Burden of Depression in Ophthalmic Patients","volume":"229","author":"Rasendran","year":"2021","journal-title":"Am. J. Ophthalmol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1136\/bjophthalmol-2021-320970","article-title":"Association between vision impairment and depression: A 9-year, longitudinal, nationwide, population-based cohort study in South Korea","volume":"107","author":"Seong","year":"2023","journal-title":"Br. J. Ophthalmol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1001\/jamaophthalmol.2023.6943","article-title":"Vision Impairment and Psychosocial Function in US Adults","volume":"142","author":"Almidani","year":"2024","journal-title":"JAMA Ophthalmol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1001\/jamaophthalmol.2024.3779","article-title":"Detection and Referral of Depression in Patients with Visual Impairment: A Call for Practical Training and Methods","volume":"142","author":"Lam","year":"2024","journal-title":"JAMA Ophthalmol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1007\/s00417-019-04280-8","article-title":"The absence of fundus abnormalities in Stargardt disease","volume":"257","author":"Bax","year":"2019","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1159\/000514540","article-title":"Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network","volume":"64","author":"Lorenz","year":"2021","journal-title":"Ophthalmic Res."},{"key":"ref_44","unstructured":"(2025, April 29). Deutsche Ophthalmologische Gesellschaft; Retinologische Gesellschaft; Berufsverband der Augen\u00e4rzte Deutschlands. Erbliche Netzhaut- Aderhaut- und Sehbahnerkrankungen, S1-Leitlinie AWMF-Register-Nr. 045\/023. 2021. Available online: https:\/\/register.awmf.org\/de\/leitlinien\/detail\/045-023."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1186\/s13023-023-02798-z","article-title":"A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: A narrative review with inputs from clinical practice","volume":"18","author":"Murro","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_46","unstructured":"von Livonius, B., Brunsmann, F., Holzapfel, S., and Kellner, U. (2024). Comprehensive care for visually impaired and blind people in addition to optical care. Klin. Monatsbl Augenheilk, online ahead of print."},{"key":"ref_47","first-page":"470","article-title":"Assessment of vision-related quality of life and depression and anxiety rates in patients with neovascular age-related macular degeneration","volume":"96","author":"Shi","year":"2021","journal-title":"Arch. Soc. Esp. Oftalmol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"e000640","DOI":"10.1136\/bmjophth-2020-000640","article-title":"Knowledge of patient emotional health status: Impact on clinical care in glaucoma and retinal services","volume":"6","author":"Naufal","year":"2021","journal-title":"BMJ Open Ophthalmol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e26","DOI":"10.1111\/aos.15201","article-title":"The management of neovascular age-related macular degeneration: A systematic literature review of patient-reported outcomes, patient mental health and caregiver burden","volume":"101","author":"Gale","year":"2023","journal-title":"Acta Ophthalmol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.ajo.2023.07.005","article-title":"Depression in Individuals With Diabetic Retinopathy in the US National Health and Nutrition Examination Survey, 2005\u20132008","volume":"256","author":"Valluru","year":"2023","journal-title":"Am. J. Ophthalmol."},{"key":"ref_51","doi-asserted-by":"crossref","unstructured":"Wolfram, C., Pfeiffer, N., Hudde, T., Klatt, A., Schnegelsberg, B., Ross, M., Ziemssen, F., and Schuster, A.K. (2023). The Psychological, Social and Behavioral Impact of Intravitreal Anti-VEGF Therapy: An Analysis from the ALBATROS Data. J. Clin. Med., 12.","DOI":"10.20944\/preprints202311.0821.v1"},{"key":"ref_52","first-page":"1127","article-title":"Diagnostics and management of patients with inherited retinal diseases in Germany: Results of a nationwide survey of university and non-university eye departments and specialized practices","volume":"120","author":"Kunzel","year":"2023","journal-title":"Ophthalmologie"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1167\/iovs.65.6.5","article-title":"Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire","volume":"65","author":"Parekh","year":"2024","journal-title":"Investig. Ophthalmol. Vis. Sci."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/9\/3229\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:27:59Z","timestamp":1760030879000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/9\/3229"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,6]]},"references-count":53,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,5]]}},"alternative-id":["jcm14093229"],"URL":"https:\/\/doi.org\/10.3390\/jcm14093229","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,6]]}}}