Standardized Assessment of Health-Related Quality of Life in Patients with Congenital AniridiaShow others and affiliations
2025 (English)In: Klinische Monatsblätter für Augenheilkunde, ISSN 0023-2165, E-ISSN 1439-3999, Vol. 242, no 03, p. 228-239Article in journal (Refereed) Published
Abstract [en]
Introduction Congenital aniridia is a rare panocular disorder that is associated with varying degrees of impairment of visual acuity. The COST Action (CA18116) developed a survey (aniridia-net.eu) to assess patient-reported experiences with congenital aniridia and its impacts on vision and daily life. Here, we correlate the survey responses of German patients with congenital aniridia with clinical ophthalmology data acquired at the Homburger Aniridia Center. Patients and Methods The patients completed the German-language version of a 20-point ANIRIDIA-NET survey. The survey included demographic information, the most common symptoms caused by the disease, difficulties caused by visual impairment in various life situations, and the frequency of using visual aids in daily life. As for clinical data, best-corrected visual acuity (BCVA) as well as corneal, lens, and glaucoma status were collected. Results A total of 71 participants, 27 (38.0%) children and 44 (61.7%) adults, completed the questionnaire, with an age range of 28.8 +/- 20.2 years (6 - 78 years). Among them, 55 (77.4%) reported daily light sensitivity, 34 (47.8%) experienced dry eyes, 17 (23.9%) had fluctuating vision, 11 (15.4%) reported eye pain, and 5 (7.0%) experienced daily watering eyes. Older patients reported significantly more eye complaints than children (p < 0,001). Notably, patients with more advanced aniridia-associated keratopathy (AAK) exhibited a discernibly lower quality of life (rho = 0.28, p = 0.027). Similarly, cataract surgery early in life was associated with a more pronounced decline in quality of life (rho = - 0.36, p = 0.002). Thirty-five (49.2%) patients never needed assistance for their commute to school/work, 27 (38.0%) and 22 (30.9%) never needed assistance for their daily routines at home or various social activities, respectively. Regarding the use of visual aids, 39 (24.9%) reported that they always used visual aids at work or school, 24 (33.8%) during social activities, and 32 (45.1%) during free time activities. Conclusions Although congenital aniridia is associated with reduced visual acuity, the majority of affected individuals, especially during childhood, report that they were able to manage personal communication and various life situations independently and without significant difficulties, despite their eye-related issues. Visual aids serve as crucial support for them during their transition into adulthood and as they age. Symptoms of congenital aniridia subjects, described by the ANIRIDIA-NET survey, correlated well with clinical findings. Therefore, the questionnaire may provide important information for the treating ophthalmologist for follow-up examination of these patients and improvement in their life quality.
Place, publisher, year, edition, pages
GEORG THIEME VERLAG KG , 2025. Vol. 242, no 03, p. 228-239
Keywords [en]
congenital aniridia; visual impairment; questionnaire; quality of life (QoL); kongenitale Aniridie; Sehbehinderung; Fragebogen; Lebensqualit & auml
National Category
Otorhinolaryngology
Identifiers
URN: urn:nbn:se:liu:diva-210696DOI: 10.1055/a-2463-3879ISI: 001380661100001PubMedID: 39694046Scopus ID: 2-s2.0-85212960850OAI: oai:DiVA.org:liu-210696DiVA, id: diva2:1925861
Note
Funding Agencies|Dr. Rolf M. Schwiete Foundation; COST Action [CA18116 ANIRIDIA-NET]
2025-01-092025-01-092026-02-03Bibliographically approved